2018 – The Year of the Segment

Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

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Disclosure

I receive a small contribution when you click on the link to one of the vendors in my articles. This does NOT increase the price you pay, but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

Big Y-500 STR Matching

Family Tree DNA recently introduced Big Y-500 STR matching for men who have taken  the Big Y-500 test. This is in addition to the SNP results and matching. If you’d like an introduction or definition of the terms STR and SNP, you can read about SNPs and STRs here.

Beginning in April 2018, Family Tree DNA included an additional 379+ STR markers for free for Big Y testers as a bonus, meaning for free, including all earlier testers.

While the Big Y-500 STR marker values have been included in customers’ results for several months, unless you contacted your matches directly, you didn’t know how many of those additional markers above 111 you matched on – until now.

If you haven’t taken the Big Y test, the article Why the Big Y Test? will explain why you might want to. In addition to the Big Y results, which refine your haplogroup and scan the entire gold standard region of the Y chromosome looking for SNPs, you’ll also receive at least 389 Y STR markers above the 111 STR panel for total of at least 500, for free – which is why the name of the Big Y test was changed to the Big Y-500. If you haven’t tested at the 111 marker level, don’t worry about that because the cost of the upgrade is bundled in the price of the Big Y-500 test. Click here to sign in to your account and then click on the blue upgrade button to view pricing.

Big Y-500 STR Matching

To view your matches and values above the traditional 111 makers, sign on to your account and click on Y DNA matches.

You’ll see the following display.

Y500 matches

The column “Big Y-500 STR Differences” is new. If you have not taken the Big Y-500 test, you won’t see this column.

If you have taken the Big Y-500, you’ll see results for any other man that you match who has taken the Big Y-500 test. In this example, 5 of this person’s matches have also taken the Big Y-500 test.

What Are Big Y-500 STR Differences?

The “Big Y-500 STR Differences” column values are expressed in the format “4 of 441” or something similar.

The first number represents the number of non-matching locations you have above 111 markers – in this case, 4. In the csv download file, this value is displayed in the “Big Y-500 Differences” column.

The second number represents the total number of markers above 111 that have a value for both of you – in this case, 441. In other words, you and the other man are being compared on 441 marker locations. In the csv download file, this value is displayed in the “Big Y-500 Compared” column.

Because the markers above 111 are processed using NGS (next generation sequencing) scan technology, virtually every kit will have some marker locations that have no-calls, meaning the test doesn’t read reliably at that location in spite of being scanned several times.

It’s more difficult to read STRs accurately using NGS scan technology, as compared to SNPs. SNPs are only one position in length, so only one position needs to be read correctly. STRs are repeated of a sequence of nucleotides. A 20 repeat sequence could consist of 20 copies of a series of 4 nucleotides, so a total of 80 positions in a row would need to be successfully read several times.

Let’s take a look at how matching works.

How Does Big Y-500 STR Matching Work?

If you have a total of 441 markers that read reliably, but your match has a total of 439 that produced results, the maximum number of markers possible to share would be 439. If you both have no calls on different marker locations, you would match on fewer than 439 locations. Here’s an example just using 9 fictitious markers.

Y500 match example

Based on the example above, we can see that the red cells can’t match because they experienced no-calls, and the yellow cells do have results, but don’t match.

Y500 summary

New Filter

There’s also a new filter option so you can view only matches that have taken the Big Y-500 test.

Y500 filter

Let’s look at some of the questions people have been asking.

Frequently Asked Questions

Question 1: Are the markers above 111 taken into account in the Genetic Distance column?

Answer: No, the values calculated in the genetic distance column are the number of mismatches for the marker level you are viewing using a combination of the step-wise and infinite alleles mutation models. (Stay with me here.)

In our example, we’re viewing the 111 marker level, so the genetic distance tells you the number of mismatches at 111 markers. If we were viewing the 67 marker level, then the genetic distance would be for 67 markers.

The number of mismatches above 111 markers shows separately in the “Big Y-500 STR Differences” column and is calculated using the infinite alleles model, meaning every mutation is counted as one difference. You can read more about genetic distance in the article, Concepts – Genetic Distance.

The good news is that you don’t need to calculate anything, but you may want to understand how the markers are scored and how the genetic distance is calculated. If so, go ahead and read question 2. If not, skip to question 3.

Question 2: What’s the difference between the step-wise model and the infinite alleles model?

Answer: The step-wise model assumes that a mutated value on a particular marker of multiple steps, meaning a difference between a 28 for one man and a 30 for another is a result of two separate mutation events that happened at different times, so counted as 2 mutations, 2 steps, so a genetic distance of 2.

However, this doesn’t work well with palindromic markers, explained here, where multi-copy markers, such as DYS464, often mutate more than one step at a time.

Counting multiple mathematical differences as only one mutation event is called the infinite alleles model. For example, a dual copy marker that has a value of 15-16 could mutate to 15-18 in one step and would be counted as one mutation event, and one difference and a genetic distance of one using the infinite alleles model. The same event would count as 2 mutation events (steps) and a genetic distance of 2 using the step-wise mutation model. In this article, I explain which markers are calculated using which methodology.

Another good infinite alleles example is when a location loses it’s DNA at a marker entirely. If the marker value for most men being compared is 10 and is being compared to a  person with no DNA at that location, resulting in a null value of 0 (which is not the same as a no-call which means the location couldn’t be read successfully), the mutation event happened in one step, and the difference should be counted as one event, one step and a genetic distance of one, not 10 events, 10 steps and a genetic distance of 10.

To recap, the values of markers 1-111 are calculated by a combination of the step-wise model and the infinite alleles model, depending on the marker number and situation. The differences in markers above 111 are calculated using the infinite alleles model where every mutation or difference equals a distance of one unless a zero (null) is encountered. In that case, the mutation event is considered a one. However, above 111 markers, using NGS technology, most instances where no DNA is encountered results in a no-read, not a null value.

Question 3: Has the TIP calculator been updated?

Answer: No, the TIP calculator does not take into account the new markers above 111. The TIP calculator relies upon the combined statistical mutation frequency for each marker and includes haplogroup differences. Therefore, it would be difficult to compensate for different numbers of markers, with various markers missing for each individual above 111 markers. The TIP calculator only utilizes markers 1-111.

Question 4: Do projects display more than 111 markers?

Answer: No, projects don’t display the additional markers, at least not yet. The 111 marker results require scrolling to the right significantly, and 500 markers would require 5 times as much scrolling to compare values. Anyone with an idea how to better accomplish a public project display/comparison should submit their idea to Family Tree DNA.

Question 5: Which markers above 111 are fast versus slow mutating?

Answer: Results for these markers are new and statistical compilations aren’t yet available. However, initial results for surname projects in which several men who share a surname and match have tested indicate that there’s not as much variation in these additional markers as we’ve seen in the previous 111 markers, meaning Family Tree DNA already selected the most informative genealogical markers initially. This suggests that the additional markers may provide additional mutations but probably not five times as many as the initial 111 markers.

Question 6: Why do I have more mutations in the first 111 markers than I do in the 389+ markers above the 111 panel?

Answer: That’s a really good question. You’ve probably noticed in our example that the men have dis-proportionally more mutations in the first 111 markers than in the markers above 111.

Y500 genetic distance

The trend is clearly for the first 111 markers to mutate more frequently than the 379+ markers above 111. This means that the first 111 markers are generally going to be more genealogically informative than the balance of the 379+ markers. However, and this is a big however, if the line marker mutation that you need to sort out your group of men occurs in the markers above 111, the number of mutations and the percentages don’t mean anything at all. The information that matters is how you can utilize these markers to differentiate men within the line you are working with, and what story those markers tell.

Of course, the markers above 111 are free as part of the Big Y-500 test which is designed to extract as much SNP information as possible. In essence, these STR markers are icing on the cake – a treat we never expected.

Bottom Line

Here’s the bottom line about the Big-Y 500 STR markers. You don’t know what you don’t know and these 379+ STR markers come along with the Big Y test as a bonus. If you’re looking for line-marker STR mutations in groups of men, the Big Y-500 is a logical next step after 111 marker testing.

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Disclosure

I receive a small contribution when you click on the link to one of the vendors in my articles. This does NOT increase the price you pay, but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

Concepts – Paternal vs Patrilineal and Maternal vs Matrilineal

Sometimes a single word – and its interpretation – makes a world of difference.

For example, maternal versus matrilineal and paternal versus patrilineal.

What’s the difference and why does it matter?

In genetic genealogy, it’s very important.

Y and Mitochondrial DNA Lineage

When we explain the differences between Y, mitochondrial and autosomal DNA, we used to tell people that Y was your paternal line and mitochondrial (mtDNA) was your maternal line.

People became confused.

Y and mito

Here’s the pedigree chart generally used to explain the people in your tree represented by Y (blue boxes) and mtDNA (red circles) testing. Unlike autosomal, Y and mitochondrial only tests one line, but tests that one line VERY deeply, providing information not available through autosomal testing.

Y DNA tests only the Y DNA of the line shown with the blue boxes, NOT everyone on your paternal side.

Mitochondrial DNA tests only the line shown in red circles, NOT everyone on your maternal side.

That’s a good thing, not a bad thing, because this type of testing reveals information and matching opportunities not available through autosomal testing.

Maternal Versus Matrilineal, Paternal Versus Patrilineal

When we say maternal and paternal, the meaning can easily be confused.

Paternal and maternal

Anyone on the father’s entire side of the tree literally is paternal, and anyone on the mother’s side literally is maternal. The line is drawn straight down the middle, with half of your ancestors on each side.

Paternal and Maternal sides

What we really mean when we discuss Y and mtDNA testing is patrilineal and matrilineal. Those words mean the direct paternal line only, and the direct maternal line only, shown below.

patrilineal vs matrilineal

There doesn’t seem to be as much confusion with understanding that the Y chromosome follows the patrilineal line – probably because we’re used to this concept as the surname follows the same Y DNA path.

Matrilineal means the same thing on the maternal side, but there isn’t any key anchor concept, such as surname to go along with it. Therefore, when I’m discussing mitochondrial DNA testing, I say, “matrilineal, meaning your mother’s mother’s mother’s line, on up the tree until you run out of mothers.”

Why is this So Important?

Aside from the fact that expectations can easily be mis-set resulting in misinterpreted results, the concept of patrilineal and matrilineal are important because this confusion results in the confused person in advertently confusing others.

For example, when people want to take a mitochondrial DNA test to see if their Native American ancestor is on their mother’s side, what they are really testing is their matrilineal line, not everyone on their mother’s side of the tree.

Native American mitochondrial haplogroups are known to be subsets of haplogroups A, B, C, D and X. If the matrilineal line is Native, the mitochondrial results will fall into the proper Native subgroup. If not, they won’t.

However, a maternal Native American ancestor could well exist in any other ancestor or ancestors whose circles and squares aren’t colored at all – shown below by haplogroup B2a.

Native nonpatrilineal nonmatrilineal

Conversely, a male Native American ancestor could exist in any of those other lines as well, shown above by C-M217. The only way to discover that information is to DNA test someone who carries the Y or mitochondrial DNA of each of your ancestral lines.

At Family Tree DNA

At Family Tree DNA, the only vendor that does full Y and mitochondrial testing and matching, one of the information fields that testers are asked to provide is titled “Earliest Known Ancestors.”

FTDNA earliest known ancestor

Although this field says specifically how to determine the relevant ancestor they are asking about, many people either don’t read this, or don’t understand, or they enter the information before their results come back and never think to update this field when they discover that this isn’t their Native line after all.

On the Matches Map tab, where this information can also be entered, there is no explanation for which ancestor they are asking for. Often, I see males names have been entered in the direct maternal field, so the person interpreted this as their OLDEST person on their mother’s side – which of course is inaccurate – instead of their most distant matrilineal ancestor.

The problem is that if the tester enters a person who was born in Germany, and the matrilineal ancestor is a Native American female (or vice versa), this provides incorrect information to the system which then uses that compiled information to populate Haplogroup Origins, Ancestral Origins and the locations on the Family Tree DNA universal Y haplotree and mitochondrial public haplotree for other people. This is why you often see people in European haplogroups shown as “Native American.” Other testers’ information is part of what is provided on those pages. Collaboration is the underpinning foundation of genetic genealogy, but it also carries with it the opportunity for error.

Family Tree DNA provides a lot of information to customers, but some of it relies on information from other testers, so please test, and please be sure that your information is accurately reflected in these fields. Now might be a good time to check.

What About My Other Lines?

You can’t test for lines other than your patrilineal (males only) and your matrilineal (both genders) personally, BUT, other family members can – and you can surely gift them with tests. I look at it this way; they are testing for me, and if I could, I’d test for that line in a heartbeat – so I’m more than willing to provide a scholarship for their testing.

In the situation above, your mother’s father carries the mitochondrial DNA that you seek, shown as Native American B2a. If he’s not living, his siblings carry that same mitochondrial DNA. If he has sisters, their children, both male and female carry his mother’s mitochondrial DNA too. You need to follow the lineage through all females to a living relative who’s willing to test.

To obtain the DNA of the Native male, shown above as C-M217, you’d need to test your father’s mother’s father, or her brothers, or their sons. Follow this line up and down in the tree to find a male who carries that surname who is not adopted into the family.

I wrote about determining who to test in this article, along with a more detailed article about who to test for your father’s Y and mtDNA DNA, here.

DNA Haplogroup Pedigree Tree

I’ve been gathering my own ancestors’ Y and mtDNA information, because only Y and mtDNA provides a periscope view directly down a single line without admixture from the other parent.

DNA 8 grandparent

There’s just so much to learn! Where they originated, the history of their lineage, who you match and more. Y and mtDNA reaches back before surnames.

What can you learn about your family lines, and who can you ask to test?

What About You?

You can order the Y DNA for males and the mtFull test for either males or females at Family Tree DNA. When I ask a family member to test, I always offer to also purchase a Family Finder test at the same time so we can utilize their autosomal DNA as well, which is inherited from all of their lines. The cousin and I both get to know our ancestors better and advanced matching feature allows combined matching between all kinds of tests.

The Family Finder test can then be leveraged by uploading the autosomal DNA files to other free databases such as GedMatch and MyHeritage to obtain even more matches.

Your cousins and family members are goldmines containing the DNA nuggets of your ancestors just waiting to be found!

Ready for More?

If you have enjoyed this concepts article, you may enjoy other articles in our concepts series.

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Disclosure

I receive a small contribution when you click on the link to one of the vendors in my articles. This does NOT increase the price you pay, but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

Whole Genome Sequencing – Is It Ready for Prime Time?

Dante Labs is offering a whole genomes test for $199 this week as an early Black Friday special.

Please note that just as I was getting ready to push the publish button on this article, Veritas Genetics also jumped on the whole sequencing bandwagon for $199 for the first 1000 testers Nov. 19 and 20th. In this article, I discuss the Dante Labs test. I have NOT reviewed Veritas, their test nor terms, so the same cautions discussed below apply to them and any other company offering whole genome sequencing. The Veritas link is here.

Update – Veritas provides the VCF file for an additional $99, but does not provide FASTQ or BAM files, per their Tweet to me.

I have no affiliation with either company.

$199 (US) is actually a great price for a whole genome test, but before you click and purchase, there are some things you need to know about whole genome sequencing (WGS) and what it can and can’t do for you. Or maybe better stated, what you’ll have to do with your own results before you can utilize the information for genealogical purposes.

The four questions you need to ask yourself are:

  • Why do you want to consider whole genome testing?
  • What question(s) are you trying to answer?
  • What information do you seek?
  • What is your testing goal?

I’m going to say this once now, and I’ll say it again at the end of the article.

Whole genome sequencing tests are NOT A REPLACEMENT FOR GENEALOGICAL DNA TESTS for mitochondrial, Y or autosomal testing. Whole genome sequencing is not a genealogy magic bullet.

There are both pros and cons of this type of purchase, as with most everything. Whole genome tests are for the most experienced and technically savvy genetic genealogists who understand both working with genetics and this field well, who have already taken the vendors’ genealogy tests and are already in the Y, mitochondrial and autosomal comparison data bases.

If that’s you or you’re interested in medical information, you might want to consider a whole genome test.

Let’s start with some basics.

What Is Whole Genome Sequencing?

Whole Genome Sequencing will sequence most of your genome. Keep in mind that humans are more than 99% identical, so the only portions that you’ll care about either medically or genealogically are the portions that differ or tend to mutate. Comparing regions where you match everyone else tells you exactly nothing at all.

Exome Sequencing – A Subset of Whole Genome

Exome sequencing, a subset of whole genome sequencing is utilized for medical testing. The Exome is the region identified as the portions most likely to mutate and that hold medically relevant information. You can read about the benefits and challenges of exome testing here.

I have had my Exome sequenced twice, once at Helix and once at Genos, now owned by NantOmics. Currently, NantOmics does not have a customer sign-in and has acquired my DNA sequence as part of the absorption of Genos. I’ll be writing about that separately. There is always some level of consumer risk in dealing with a startup.

I wrote about Helix here. Helix sequences your Exome (plus) so that you can order a variety of DNA based or personally themed products from their marketplace, although I’m not convinced about the utility of even the legitimacy of some of the available tests, such as the “Wine Explorer.”

On the other hand, the world-class The National Geographic Society’s Genographic Project now utilizes Helix for their testing, as does Spencer Well’s company, Insitome.

You can also pay to download your Exome sequence data separately for $499.

Autosomal Testing for Genealogy

Both whole genome and Exome testing are autosomal testing, meaning that they test chromosomes 1-22 (as opposed to Y and mitochondrial DNA) but the number of autosomal locations varies vastly between the various types of tests.

The locations selected by the genealogy testing companies are a subset of both the whole genome and the Exome. The different vendors that compare your DNA for genealogy generally utilize between 600,000 and 900,000 chip-specific locations that they have selected as being inclined to mutate – meaning that we can obtain genealogically relevant information from those mutations.

Some vendors (for example, 23andMe and Ancestry) also include some medical SNPs (single nucleotide polymorphisms) on their chips, as both have formed medical research alliances with various companies.

Whole genome and Exome sequencing includes these same locations, BUT, the whole genome providers don’t compare the files to other testers nor reduce the files to the locations useful for genealogical comparisons. In other words, they don’t create upload files for you.

The following chart is not to scale, but is meant to convey the concept that the Exome is a subset of the whole genome, and the autosomal vendors’ selected SNPs, although not the same between the companies, are all subsets of the Exome and full genome.

I have not had my whole genome sequenced because I have seen no purpose for doing so, outside of curiosity.

This is NOT to imply that you shouldn’t. However, here are some things to think about.

Whole Genome Sequencing Questions

Coverage – Medical grade coverage is considered to be 30X, meaning an average of 30 scans of every targeted location in your genome. Some will have more and some will have less. This means that your DNA is scanned thirty different times to minimize errors. If a read error happens once or twice, it’s unlikely that the same error will happen several more times. You can read about coverage here and here.

Genomics Education Programme [CC BY 2.0 (https://creativecommons.org/licenses/by/2.

Here’s an example where the read length of Read 1 is 18, and the depth of the location shown in light blue is 4, meaning 4 actual reads were obtained. If the goal was 30X, then this result would be very poor. If the goal was 4X then this location is a high quality result for a 4X read.

In the above example, if the reference value, meaning the value at the light blue location for most people is T, then 4 instances of a T means you don’t have a mutation. On the other hand, if T is not the reference value, then 4 instances of T means that a mutation has occurred in that location.

Dante Labs coverage information is provided from their webpage as follows:

Other vendors coverage values will differ, but you should always know what you are purchasing.

Ownership – Who owns your data? What happens to your DNA itself (the sample) and results (the files) under normal circumstances and if the company is sold. Typically, the assets of the company, meaning your information, are included during any acquisition.

Does the company “share, lease or sell” your information as an additional revenue stream with other entities? If so, do they ask your permission each and every time? Do they perform internal medical research and then sell the results? What, if anything, is your DNA going to be used for other than the purpose for which you purchased the test? What control do you exercise over that usage?

Read the terms and conditions carefully for every vendor before purchasing.

File Delivery – Three types of files are generated during a whole genome test.

The VCF (Variant Call Format) which details your locations that are different from the reference file. A reference file is the “normal” value for humans.

A FASTQ file which includes the nucleotide sequence along with a corresponding quality score. Mutations in a messy area or that are not consistent may not be “real” and are considered false positives.

The BAM (Binary Alignment Map) file is used for Y DNA SNP alignment. The output from a BAM file is displayed in Family Tree DNA’s Big Y browser for their customers. Are these files delivered to you? If so, how? Family Tree DNA delivers their Big Y DNA BAM files as free downloads.

Typically whole genome data is too large for a download, so it is sent on a disc drive to you. Dante provides this disc for BAM and FASTQ files for 59 Euro ($69 US) plus shipping. VCF files are available free, but if you’re going to order this product, it would be a shame not to receive everything available.

Version – Discoveries are still being made to the human genome. If you thought we’re all done with that, we’re not. As new regions are mapped successfully, the addresses for the rest change, and a new genomic map is created. Think of this as street addresses and a new cluster of houses is now inserted between existing houses. All of the houses are periodically renumbered.

Today, typically results are delivered in either of two versions: hg19(GRVH37) or hg38(GRCH38). What happens when the next hg (human genome) version is released?

When you test with a vendor who uses your data for comparison as a part of a product they offer, they must realign your data so that the comparison will work for all of their customers (think Family Tree DNA and GedMatch, for example), but a vendor who only offers the testing service has no motivation to realign your output file for you. You only pay for sequencing, not for any after-the-fact services.

Platform – Multiple sequencing platforms are available, and not all platforms are entirely compatible with other competing platforms. For example, the Illumina platform and chips may or may not be compatible with the Affymetrix platform (now Thermo Fisher) and chips. Ask about chip compatibility if you have a specific usage in mind before you purchase.

Location – Where is your DNA actually being sequenced? Are you comfortable having your DNA sent to that geographic location for processing? I’m personally fine with anyplace in either the US, Canada or most of Europe, but other locations maybe not so much. I’d have to evaluate the privacy policies, applicable laws, non-citizen recourse and track record of those countries.

Last but perhaps most important, what do you want to DO with this file/information?

Utilization

What you receive from whole genome sequencing is files. What are you going to do with those files? How can you use them? What is your purpose or goal? How technically skilled are you, and how well do you understand what needs to be done to utilize those files?

A Specific Medical Question

If you have a particular question about a specific medical location, Dante allows you to ask the question as soon as you purchase, but you must know what question to ask as they note below.

You can click on their link to view their report on genetic diseases, but keep in mind, this is the disease you specifically ask about. You will very likely NOT be able to interpret this report without a genetic counselor or physician specializing in this field.

Take a look at both sample reports, here.

Health and Wellness in General

The Dante Labs Health and Wellness Report appears to be a collaborative effort with Sequencing.com and also appears to be included in the purchase price.

I uploaded both my Exome and my autosomal DNA results from the various testing companies (23andMe V3 and V4, Ancestry V1 and V2, Family Tree DNA, LivingDNA, DNA.Land) to Promethease for evaluation and there was very little difference between the health-related information returned based on my Exome data and the autosomal testing vendors. The difference is, of course, that the Exome coverage is much deeper (and therefore more reliable) because that test is a medical test, not a consumer genealogy test and more locations are covered. Whole genome testing would be more complete.

I wrote about Promethease here and here. Promethease does accept VCF files from various vendors who provide whole genome testing.

None of these tests are designed or meant for medical interpretation by non-professionals.

Medical Testing

If you plan to test with the idea that should your physician need a genetics test, you’re already ahead of the curve, don’t be so sure. It’s likely that your physician will want a genetics test using the latest technology, from their own lab, where they understand the quality measures in place as well as how the data is presented to them. They are unlikely to accept a test from any other source. I know, because I’ve already had this experience.

Genealogical Comparisons

The power of DNA testing for genealogy is comparing your data to others. Testing in isolation is not useful.

Mitochondrial DNA – I can’t tell for sure based on the sample reports, but it appears that you receive your full sequence haplogroup and probably your mutations as well from Dante. They don’t say which version of mitochondrial DNA they utilize.

However, without the ability to compare to other testers in a database, what genealogical benefit can you derive from this information?

Furthermore, mitochondrial DNA also has “versions,” and converting from an older to a newer version is anything but trivial. Haplogroups are renamed and branches sawed from one part of the mitochondrial haplotree and grafted onto another. A testing (only) vendor that does not provide comparisons has absolutely no reason to update your results and can’t be expected to do so. V17 is the current build, released in February 2016, with the earlier version history here.

Family Tree DNA is the only vendor who tests your full sequence mitochondrial DNA, compares it to other testers and updates your results when a new version is released. You can read more about this process, here and how to work with mtDNA results here.

Y DNA – Dante Labs provides BAM files, but other whole genome sequencers may not. Check before you purchase if you are interested in Y DNA. Again, you’ll need to be able to analyze the results and submit them for comparison. If you are not capable of doing that, you’ll need to pay a third party like either YFull or FGS (Full Genome Sequencing) or take the Big Y test at Family Tree DNA who has the largest Y Database worldwide and compares results.

Typically whole genome testers are looking for Y DNA SNPs, not STR values in BAM files. STR (short tandem repeat) values are the results that you receive when you purchase the 37, 67 or 111 tests at Family Tree DNA, as compared to the Big Y test which provides you with SNPs in order to resolve your haplogroup at the most granular level possible. You can read about the difference between SNPs and STRs here.

As with SNP data, you’ll need outside assistance to extract your STR information from the whole genome sequence information, none of which will be able to be compared with the testers in the Family Tree DNA data base. There is also an issue of copy-count standardization between vendors.

You can read about how to work with STR results and matches here and Big Y results here.

Autosomal DNA – None of the major providers that accept transfers (MyHeritage, Family Tree DNA, GedMatch) accept whole genome files. You would need to find a methodology of reducing the files from the whole genome to the autosomal SNPs accepted by the various vendors. If the vendors adopt the digital signature technology recently proposed in this paper by Yaniv Erlich et al to prevent “spoofed files,” modified files won’t be accepted by vendors.

Summary

Whole genome testing, in general, will and won’t provide you with the following:

Desired Feature Whole Genome Testing
Mitochondrial DNA Presumed full haplogroup and mutations provided, but no ability for comparison to other testers. Upload to Family Tree DNA, the only vendor doing comparisons not available.
Y DNA Presume Y chromosome mostly covered, but limited ability for comparison to other testers for either SNPs or STRs. Must utilize either YFull or FGS for SNP/STR analysis. Upload to Family Tree DNA, the vendor with the largest data base not available when testing elsewhere.
Autosomal DNA for genealogy Presume all SNPs covered, but file output needs to be reduced to SNPs offered/processed by vendors accepting transfers (Family Tree DNA, MyHeritage, GedMatch) and converted to their file formats. Modified files may not be accepted in the future.
Medical (consumer interest) Accuracy is a factor of targeted coverage rate and depth of actual reads. Whole genome vendors may or may not provide any analysis or reports. Dante does but for limited number of conditions. Promethease accepts VCF files from vendors and provides more.
Medical (physician accepted) Physician is likely to order a medical genetics test through their own institution. Physicians may not be willing to risk a misdiagnosis due to a factor outside of their control such as an incompatible human genome version.
Files VCF, FASTQ and BAM may or may not be included with results, and may or may not be free.
Coverage Coverage and depth may or may not be adequate. Multiple extractions (from multiple samples) may or may not be included with the initial purchase (if needed) or may be limited. Ask.
Updates Vendors who offer sequencing as a part of a products that include comparison to other testers will update your results version to the current reference version, such as hg38 and mitochondrial V17. Others do not, nor can they be expected to provide that service.
Version Inquire as to the human genome (hg) version or versions available to you, and which version(s) are acceptable to the third party vendors you wish to utilize. When the next version of the human genome is released, your file will no longer be compatible because WGS vendors are offering sequencing only, not results comparisons to databases for genealogy.
Ownership/Usage Who owns your sample? What will it be utilized for, other than the service you ordered, by whom and for what purposes? Will you we able to authorize or decline each usage?
Location Where geographically is your DNA actually being sequenced and stored? What happens to your actual DNA sample itself and the resulting files? This may not be the location where you return your swab kit.

The Question – Will I Order?

The bottom line is that if you are a genealogist, seeking genetic information for genealogical purposes, you’re much better off to test with the standard and well know genealogy vendors who offer compatibility and comparisons to other testers.

If you are a pioneer in this field, have the technical ability required to make use of a whole genome test and are willing to push the envelope, then perhaps whole genome sequencing is for you.

I am considering ordering the Dante Labs whole genome test out of simple curiosity and to upload to Promethease to determine if the whole genome test provides me with something potentially medically relevant (positive or negative) that autosomal and Exome testing did not.

I’m truly undecided. Somehow, I’m having trouble parting with the $199 plus $69 (hard drive delivery by request when ordering) plus shipping for this limited functionality. If I was a novice genetic genealogist or was not a technology expert, I would definitely NOT order this test for the reasons mentioned above.

A whole genome test is not in any way a genealogical replacement for a full sequence mitochondrial test, a Y STR test, a Y SNP test or an autosomal test along with respective comparison(s) in the data bases of vendors who don’t allow uploads for these various functions.

The simple fact that 30X whole genome testing is available for $199 plus $69 plus shipping is amazing, given that 15 years ago that same test cost 2.7 billion dollars. However, it’s still not the magic bullet for genealogy – at least, not yet.

Today, the necessary integration simply doesn’t exist. You pay the genealogy vendors not just for the basic sequencing, but for the additional matching and maintenance of their data bases, not to mention the upgrading of your sequence as needed over time.

If I had to choose between spending the money for the WGS test or taking the genealogy tests, hands down, I’d take the genealogy tests because of the comparisons available. Comparison and collaboration is absolutely crucial for genealogy. A raw data file buys me nothing genealogically.

If I had not previously taken an Exome test, I would order this test in order to obtain the free Dante Health and Wellness Report which provides limited reporting and to upload my raw data file to Promethease. The price is certainly right.

However, keep in mind that once you view health information, you cannot un-see it, so be sure you do really want to know.

What do you plan to do? Are you going to order a whole genome test?

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Standard Disclosure

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Jacob Lentz’s Signatures: Cursive and Genetic – 52 Ancestors #216

What is a signature anyway?

A signature is defined as a mark or something that personally identifies an individual. A form of undeniable self-identification.

Of course, that’s exactly why I seek my ancestors’ signatures, both their handwriting and their genetic signature.

Jacob Lentz was born in Germany in 1783 and died in 1870 in Ohio.

Most documents of that timeframe contained only facsimiles of actual signatures. Original deeds indicate that the document was signed, but when recorded in deed books at the courthouse, the clerk only transcribed the signature. The person recorded the physical deed that they had in their hand, and then took it home with them. Therefore, the deed book doesn’t hold the original signature – the original deed does. I was crestfallen years ago when I discovered that fact. ☹

Hence, the actual physical signature of an ancestor is rare indeed.

Recently, I’ve been lucky enough to find not one, but two actual signatures of Jacob Lentz – plus part of his genetic signature as well.

Jacob’s Handwritten Signatures

When Jacob Lenz, later Lentz in the US, petitioned to leave Germany in 1817, he signed the petition document.

The original document is in the “Weinstadt City Archive”, which kindly gave permission for the reproduction and was graciously retrieved by my distant cousin, Niclas Witt. Thank you very much to both!

Here’s Jacob’s actual signature.

The story of Jacob’s life and immigration, and what a story it is, is recorded here, here, here and here.

Jacob’s life has a missing decade or so, after he completed his indentured servitude about 1820 or 1821 in Pennsylvania and before he arrived in Montgomery County, Ohio about 1830. In Ohio, he purchased land and began creating records. That’s where I found him initially.

Jacob’s youngest child, Mary Lentz, was born in May or June of 1829, before leaving Pennsylvania. She married in Montgomery County, Ohio on December 19, 1848 to Henry Overlease. That marriage document contains the signature of her father, Jacob Lentz.

This signature is slightly different than the German one from 31 years earlier, but it’s still clearly our Jacob, as the document states that the parents have signed. It looks like he’s also incorporated the “t” into the name now as well.

Jacob Lentz’s Genetic Signatures

As I was celebrating the discovery of not one, but two versions of Jacob’s written signature, I realized that I carry part of Jacob’s genetic signature too, as do others of his descendants. I just never thought of it quite like that before.

His genetic signature is every bit as personal, and even better because it’s in me, not lost to time.

There are three types of DNA that can provide genetic signatures of our ancestors; mitochondrial, Y DNA and autosomal.

Mitochondrial DNA

Mitochondrial DNA is passed from mothers to all genders of their children, but only their daughters pass it on. Therefore, it’s primarily unchanged, generation to generation.

Being a male, Jacob couldn’t pass his mitochondrial DNA on to his descendants, so we have to discover Jacob’s mitochondrial DNA by testing someone else who descends from his mother’s direct matrilineal line through all females but can be a male in the current generation.

Unfortunately, we haven’t been able to discover Jacob’s mitochondrial DNA that he inherited from his matrilineal line, meaning his mother’s mother’s mother’s line.

However, we only identified his parents a few months ago. Most of Jacob’s family didn’t immigrate, so perhaps eventually the right person will test who descends from his mother, or her matrilineal line, through all women to the current generation.

Jacob’s matrilineal line is as follows, beginning with his mother:

  • Jacob’s mother – Maria Margaretha Gribler born May 4, 1749 and died July 5, 1823 in Beutelsbach, married Jakob Lenz November 3, 1772.
  • Her mother, Katharina Nopp born April 23, 1707 and died November 27, 1764 in Beutelsbach, married Johann Georg Gribler on October 26, 1745.
  • Agnes Back/Beck born November 26, 1673 in Aichelberg, Germany, died February 10, 1752 in Beutelsbach and married Johann Georg Nopp from Beutelsbach.
  • Margaretha, surname unknown, from Magstadt who married Dionysus Beck who lived in Aichelberg, Germany.

If you descend from any of these women, or their female siblings through all females to the current generation, I have a DNA testing scholarship for mitochondrial DNA at Family Tree DNA for you! I’ll throw an autosomal Family Finder test in too!

If you’d like a read a quick article about how mitochondrial, Y DNA and autosomal DNA work and are inherited, click here.

Y-DNA

On the other hand, Jacob did contribute his Y DNA to his sons. Lentz male descendants, presuming no adoptions, carry Jacob’s Y DNA signature as their own.

We are very fortunate to have Jacob Lentz’s Y DNA signature, thanks to two male Lentz cousins. I wrote about how unique the Lentz Y DNA is, and that we’ve determined that our Lentz line descends from the Yamnaya culture in Russia some 3500 years ago. How did we do that? We match one of the ancient burials. Jacob’s haplogroup is R-BY39280 which is a shorthand way of telling us about his clan.

On the Big Y Tree, at Family Tree DNA, we can see that on our BY39280 branch, we have people whose distant ancestors were found in two locations, France and Germany. On the next upstream branch, KMS67, the parent of BY39280, we find people with that haplogroup in Switzerland and Greece.

Our ancestors are amazingly interesting.

Autosomal DNA

Jacob shares his Y and mitochondrial DNA, probably exactly, with other relatives, since both Y and mitochondrial DNA is passed intact from generation to generation, except for an occasional mutation.

However, Jacob’s autosomal DNA was the result of a precise combination of half of his mother’s and half of his father’s autosomal DNA. No one on this earth had the exact combination of DNA as Jacob. Therefore, Jacob’s autosomal DNA identifies him uniquely.

Unfortunately, Jacob isn’t alive to test, and no, I’m not digging him up – so we are left to piece together Jacob’s genetic signature from the pieces distributed among his descendants.

I realized that by utilizing DNAPainter, which allows me to track my own segments by ancestor, I have reconstructed a small portion of Jacob’s autosomal DNA.

Now, there’s a hitch, of course.

Given that there are no testers that descend from the ancestors of either Jacob or his wife, Fredericka Ruhle, at least not that I know of, I can’t sort out which of these segments are actually Jacob’s and which are Fredericka’s.

In the chart above, the tester and my mother match each other on the same segments, but without testers who descend from the parents of Jacob and Fredericka, through other children and also match on that same segment, we can’t tell which of those common segments came from Jacob and which from Fredericka. If my mother and the tester matched a tester from Jacob’s siblings, then we would know that their common segment descended through Jacob’s line, for example.

Painting Jacob’s Genetic Signature

The segments in pink below show DNA that I inherited from either Jacob or Fredericka. I match 8 other cousins who descend from Jacob Lentz and Fredericka Ruhle on some portion of my DNA – and in many cases, three or more descendants of Jacob/Fredericka match on the same exact segment, meaning they are triangulated.

As you can see, I inherited a significant portion of my maternal chromosome 3 from Jacob or Fredericka, as did my cousins. I also inherited portions of chromosomes 7, 9, 18 and 22 from Jacob or Fredericka as well. While I was initially surprised to see such a big piece of chromosome three descending from Jacob/Fredericka, Jacob Lentz and Fredericka Ruhle aren’t really that distantly removed – being my great-great-great-grandparents, or 5 generations back in time.

Based on the DNAPainter calculations, these segments represent about 2.4% of my DNA segments on my maternal side. The expected amount, if the DNA actually was passed in exactly half (which seldom happens,) would be approximately 3.125% for each Jacob and Fredericka, or 6.25% combined. That means I probably carry more of Jacob/Fredericka’s DNA that can eventually be identified by new cousin matches!

Of course, my cousins may well share segments of Jacob’s DNA with each other that I don’t, so those segments won’t be shown on my DNAPainter graph.

However, if we were to create a DNAPainter chart for Jacob/Fredericka themseves, and their descendants were to map their shared segments to that chart, we could eventually recreate a significant amount of Jacob’s genetic signature through the combined efforts of his descendants – like reassembling a big puzzle where we all possess different pieces of the puzzle.

Portions of Jacob’s genetic signature are in each of his descendants, at least for several generations! Reassembling Jacob would be he ultimate scavenger hunt.

What fun!

Resources

You can order Y and mitochondrial DNA tests from Family Tree DNA here, the only company offering these tests.

You can order autosomal tests from either Family Tree DNA or MyHeritage by clicking on those names in this sentence. You’ll need segment information that isn’t available at Ancestry, so I recommend testing with one of these two companies.

23andMe and Gedmatch also provide segment information. Some people who test at both 23andMe and Ancestry upload to GedMatch, so be sure to check there as well.

You can transfer your autosomal DNA files from one company to the other, with instructions for Family Tree DNA here and MyHeritage here, including how to transfer from Ancestry here.

You can learn how to use DNA Painter here, here and here.

Whose genetic signatures can you identify?

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Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Veterans Day Ancestor Lineup

This Veterans Day stands apart from the rest, marking the 100th anniversary of the end of WWI.

I wondered how many of my direct line male ancestors served in some capacity.

I decided to make a chart tracking what I know of their service along with their Y DNA which represents that surname lineage. This was a fun project and will provide a discussion topic with family members at that not-too-distant holiday dinner.

Do you know how many ancestors you have that served their country?

Creating and sharing a chart like this just might result in a male descended from that same ancestor, or ancestral line who carries the surname today and is willing to Y DNA test. What a wonderful way to fill in that missing portion of your ancestor’s history.

If you are a male, carry the surname and descend from one of the men (or direct paternal lines) below, I have a DNA testing scholarship for you!

Name Birth Death Service Y DNA
William Sterling Estes October 1, 1901, 2 or 3 August 27, 1963 Army, WWI, 3 tours of duty R-ZS3700
John Y. Estes Dec. 29, 1818 September 19, 1895 Civil War, CSA, POW R-ZS3700
Samuel Claxton June 6, 1827 Dec. 5, 1876 Civil War, North, died as a result of injuries R-JFS2001
Jacob Kirsch May 1, 1841 July 23, 1917 Civil War, unproven, wife applied for pension Believe we have a tester
John R. Estes Mar-June, 1787 May 30, 1885 War of 1812, bounty land R-ZS3700
George Estes Feb. 3, 1763 July 1859 Revolutionary War, 3 enlistments R-ZS3700
Moses Estes 1711 1787 French and Indian War R-ZS3700
Marcus Younger Before 1740 1816 Revolutionary War Contributor I1-M253
Jacob Dobkins 1751 Augusta Co., VA March 4, 1833 Claiborne Co., TN Revolutionary War DNA Testing Scholarship Available
Lazarus Dodson 1760 1826 Claiborne Co., TN Revolutionary War R-P25
Capt. John Dobkins After 1787 Augusts Co., VA Revolutionary War DNA Testing Scholarship Available
William McNiel 1760/61 1830 Revolutionary War R-DF104
Rev. George McNiel 1720 June 7, 1805 Revolutionary War, unproven, Battle of King’s Mountain R-DF104
William Crumley III 1788 Feb. 18, 1859 War of 1812 I-M223
Henry Bolton 1759 Nov. 24, 1846 Revolutionary War, Pennsylvania Militia R-BBY69454
William Harrell 1789/90 October 8, 1859 War of 1812 I-P37
John Harrold 1761 1828/30 Revolutionary War I-P37
Michael McDowell 1747 After 1840 Revolutionary War R-Z16432
James Lee Clarkson/Claxton about 1775 Feb. 20, 1815, Fort Decatur, GA War of 1812, died in service R-JFS2001
Samuel Muncy 1740 ? Dunsmore’s War I-Y92887
Col. Robert Craven 1696 May 1782 French and Indian War R-M269
Abraham Workman April 27, 1708 1813 Militia I-M253
Jan Derik Woertman 1665 Revolutionary War I-M253
Nicholas Speak March 3, 1782 August 4, 1804 War of 1812 I-BY14004
Gideon Faires Before 1748 March 1821 Revolutionary War, Campaign Against the Cherokees DNA Testing Scholarship Available
Philip Jacob Miller 1726 September 1799 Rev War Militia R-CTS7822
Johann Nicholas Schaeffer Jan. 3, 1736 Jan. 20, 1796 Revolutionary War R-U106
William Hall June 8, 1651 July 11, 1727 Militia Uncertain if descendant has tested

I was surprised that there were 28 veterans. One, James Lee Claxton, died in the War of 1812 and Samuel Claxton, his grandson, died as a result of his service in the Civil War.

Philip Jacob Miller was a Brethren and managed to serve in the militia in spite of that.

Several men served in frontier forts.

Two men, my father and George Estes served 3 terms each.

Furthermore, all men in colonial times were militia members, so in essence, they all served in some capacity.

I’m sure there are more veterans whose service records I just haven’t discovered yet.

Discovering Your Veterans’ Haplogroups

If you would like to compile the Y haplogroups of your service veterans, or any other male lines, first check the Y DNA projects at Family Tree DNA to see if anyone has tested in your line by clicking here and scrolling down until you see the area to enter the surname you’re searching for.

Check the surname project to determine if any of the most distant ancestors listed are yours.

Then, find a male who carries that surname in your family line to Y DNA test to confirm a match to your surname line. No one listed from your line yet? Not everyone joins projects, so be sure to test. You’ll never know what you’ll learn.

I’m upgrading several of my Y lines to Big Y tests one by one. As genealogists, we want every scrap of information about our ancestors and what better tool to tell stories about the past than their own DNA.

____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to companies with whom I have an affiliate relationship. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through my affiliate link if you are interested in products from the following companies.

Affiliate links are limited to:

Ethnicity – Far More than Percentages!

Since ethnicity results have been in the news recently, I thought this might be a good time to talk about how to squeeze more out of your ethnicity results than just percentages.

You do know there’s more, right? You can tell a lot more about where your ethnicity came from by who you match, and how. Vendors provide that information too, but you need to know where to look. Plus, I have some tips about how to use this information effectively.

Genealogists are always trying to squeeze every last drop of information out of every DNA test, so I’d like to illustrate how I use ethnicity in combination with shared matches at Ancestry, Family Tree DNA, MyHeritage and 23andMe. Each vendor has a few unique features and tools as well, plus people in their databases that other vendors don’t have.

Come along and see what you might discover!

Ancestry

Ancestry recently introduced a new ethnicity comparison feature so let’s start there. Ancestry’s new tool:

  • Compares the ethnicity of you and a match side by side.
  • Shows Shared Migrations
  • Shows you common matches with that person.

At Ancestry, I have a V1 (older) and a V2 (newer) test, so I’m comparing my own V1 to my own V2 test for purposes of illustration.

To start, click on DNA Matches. You’ll see a new blue compare button, beneath the green View Match button, at right.

Clink on any image to enlarge

Click on the blue Compare button. You’ll see a side by side display, shown below.

My V1, at left, compared to my V2 test, at right. My V2 test results do not have a photo uploaded, so you just see my initials. It’s interesting to note that even though these are both me, just tested on different chips, that my ethnicity doesn’t match exactly, although it’s mighty close.

Next, you’ll see the shared migrations between the two people being compared. This helps determine where your common ancestor might be found.

Last, you’ll see the shared matches between you and the other person. This means that those people match both you and the person you’re comparing against, suggesting a potential common ancestor.

On your matches page, you can also sort your matches by your regions.

Where Did Your Ethnicity Come From?

Ethnicity comparisons can be helpful, especially if you’re a person who carries DNA from different continents. I do not suggest trying to compare intra-continental estimates in the same way. It’s simply too difficult for vendors to separate DNA from locations that all border each other where countries are the size of states in the US, such as the Netherlands, Germany, France and Switzerland for example.

As I’ve said before, ethnicity results are only estimates, but they are relatively accurate at the continental level, plus Jewish, as illustrated below.

To be specific, these regions are the easiest for vendors to tell apart from the other regions:

  • European
  • African
  • Native American (North American, South American, Central American and Siberian in conjunction with the Americas)
  • Asian
  • Jewish

For example, if you are 30% African, 35% Native American and 35% European, you could use this information to form a hypothesis about how you match a particular individual or group of individuals.

If the person you match is 50% Asian and 50% African, it’s most likely that the region you match them on is the common African side.

Of course, the next step would be to look at the shared matches to see if those matches include your known relatives with African heritage. This is one reason I always encourage testing of relatives. Who you and your known relative both match tells you a lot about where the common ancestor of a matching group of individuals is found in your tree. For example, if someone matches you and a first cousin, then the common ancestor of the three people is on the side of your tree that you share with the first cousin.

Not exactly sure, or dealing with smaller amounts of continental ethnicity? There’s another way to work with ethnicity.

Ethnicity Match Chart

Make an Ethnicity Match Chart that includes the ethnicity of each person in the match group, as follows.

In this example, the only category in which all people fall is African, so that’s where I’d look in my tree first for a family connection.

Keep in mind that you match person 1, and people 2-4 match both you and person 1.

That does NOT mean that:

  • Person 2, 3 or 4 match each other.
  • Any of those people share the same ancestor with each other. Yes, you can match due to different ancestors that might not have anything to do with each other.
  • These people match on any of the same segments. You can’t view segments at Ancestry. You’ll have to transfer your results to Family Tree DNA, MyHeritage or GedMatch to do that.

Next, look at the trees for each person in the common match group and see if you can discern any common genealogy or even common geography. The best hints of course, at Ancestry, are those green leaf Shared Ancestor Hints. If you find a common ancestor or line, you’re well on your way to identifying how those people are related to you and potentially your match as well.

You could also use this methodology as an adaptation of or in tandem with the Leeds Method that I wrote about here.

Comparing Segments – Yes, You’ll Need To

Ancestry doesn’t offer a chromosome browser, but Family Tree DNA, MyHeritage, 23andMe and GedMatch all do, allowing you to view segments and triangulate. I always suggest uploading Ancestry results to GedMatch, Family Tree DNA and MyHeritage. 23andMe does not accept uploads.

You’ll find instructions for downloading from Ancestry here, uploading to Family Tree DNA here, and to MyHeritage here.

Other Vendors

Each vendor offers their own version of ethnicity comparison. All vendors offer in common with (ICW) and shared match tools too, so you can create your Ethnicity Match Chart for a specific group of people from any vendor’s results – although I don’t mix vendor results on one chart. Plus, every vendor has people in their matching database that no other vendor has, so fish in every pond.

Family Tree DNA

Family Tree DNA offers shared ethnicity information on the myOrigins map. To view, click on MyOrigins, then on View MyOrigins Map.

Testers who opt in can view their ethnicity as compared to their matches’ ethnicity. You can also sort by ethnicity as well as use the pin function at bottom right to drop Y and mtDNA most distant ancestor pins on the map.

Please note that this is NOT where your match lives, but is the location of their most distant matrilineal (mtDNA) or patrilineal (surname) known individual.

If you’re looking for Native American matches, for example, you might look for someone with some percentage of Native American autosomal DNA and/or Native American Y or mitochondrial haplogroups. Click on any pin to view that person and their ethnicity that matches yours. You can also search for a specific individual to see how your ethnicity lines up.

On your match list, look for common surnames with those matches, see who you match in common and check your matches’ trees.

Linking your DNA matches to their location in your tree enables you to participate in Phased Family Matching, meaning you can then select people that are assigned to your maternal or paternal sides to view in the chromosome browser.

When viewing all maternal (red icon) or all paternal (blue icon) matches together on the chromosome browser, the segments are automatically mathematically triangulated. All you need to do is identify the common ancestor!

I love Phased Family Matches. Family Tree DNA is the only vendor to offer this feature and to incorporate Y and mitochondrial DNA.

MyHeritage

MyHeritage provides multiple avenues for comparison, allowing users to select matches by their ethnicity, country or to simply compare their ethnicity to each other. To view matches by ethnicity, click on the Filter button, but note that not all ethnicity locations are included. You can also combine options, such as looking for anyone from the Netherlands with Nigerian DNA.

To view your matches ethnicity as compared to yours, click on the match and scroll down.

Look for people you match in common as well as the triangulation icon, shown at right, below. Another feature, SmartMatches (a filter option) sort for people who have common ancestors with you in trees.

I love triangulation and DNA SmartMatches and MyHeritage is the only vendor to offer this combination of tools!

23andMe

At 23andMe, you can see your ethnicity beside that of your match by clicking on DNA Relatives, on the Ancestry tab, then click on the person you wish to compare to. In my case, I’ve also taken the V3 and V4 test at 23andMe, so I’m comparing to myself.

At 23andMe, you can view which portions of your segments are attributed to which ethnicity. Under the Ancestry tab, click Ancestry Composition and scroll down to view your Ancestry Composition Chromosome Painting.

You can see my Native American segments on chromosomes 1 and 2.

Click on Scientific Details, then scroll to the bottom to download your ethnicity raw data that includes the segment detail for the location of those specific segments.

Utilizing these chromosome and segment locations with any other vendor who supports a chromosome browser, and determining which side that ethnicity descends through allows you to identify matches who should also carry segments of that same ethnicity at that same location.

Here’s my Native segment on chromosome 2 from the download file. Remember, you have two copies of every chromosome – and in my case, only one of those copies on Chromosome 2 is Native. I know it’s from my mother, so anyone matching me on my maternal side at this location on chromosome 2 should also have a Native segment, and our common ancestor is the source of our common Native American heritage.

23andMe is the only vendor to identify ethnicity segments.

23andMe does show matches in common and common matching segments on the chromosome browser, but they don’t support trees.

Your Turn!

If you carry ethnicity from multiple continents (plus Jewish), what hints can you derive from using your ethnicity as a match tool?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Family Tree DNA’s Mitochondrial Haplotree

On September 27th, 2018 Family Tree DNA published the largest Y haplotree in the world, based on SNP tests taken by customers. Now, less than two weeks later, they’ve added an exhaustive mitochondrial DNA (mtDNA) public haplotree as well, making this information universally available to everyone.

Family Tree DNA’s mtDNA Haplotree is based on the latest version of the mtDNA Phylotree. The new Family Tree DNA tree includes 5,434 branches derived from more than 150,000 full sequence results from 180+ different countries of origin. Family Tree DNA‘s tree has SIX TIMES more samples than the Phylotree. Furthermore, Family Tree DNA only includes full sequence results, where Phylotree includes partial results.

This new tree is a goldmine! What does it provide that that’s unique? Locations – lots of locations!

The Official Phylotree

Unlike the Y DNA tree, which is literally defined and constructed by the genetic community, new mitochondrial DNA branches cannot be added to the official mitochondrial Phylotree by Family Tree DNA. Haplogroups, meaning new branches in the form of SNPs are added to the Y tree as new SNPs are discovered and inserted into the tree in their proper location. The mitochondrial DNA phylotree can’t be expanded by a vendor in that manner.

The official mitochondrial Phylotree is maintained at www.phylotree.org and is episodically updated. The most recent version was mtDNA tree build 17, published and updated in February 2016. You can view version history here.

Mitochondrial Phylogenic Tree Version 17

Version 17 of the official mitochondrial tree consists of approximately 5,400 nodes, or branches with a total of 24,275 samples uploaded by both private individuals and academic researchers which are then utilized to define haplogroup branches.

Individuals can upload their own full sequence results from Family Tree DNA, but they must be in a specific format. I keep meaning to write detailed instructions about how to submit your full sequence test results, but so far, that has repeatedly slipped off of the schedule. I’ll try to do this soon.

In a nutshell, download your FASTA file from Family Tree DNA and continue with the submission process here. The instructions are below the submission box, so scroll down.

In any case, the way that new branches are added to the phylotree is when enough new results with a specific mutation are submitted and evaluated, the tree will have a new branch added in the next version. That magic number of individuals with the same mutation was 3 in the past, but now that so many more people are testing, I’m not sure if that number holds, or if it should. Spontaneous mutations can and do happen at the same location. The Phylotree branches mean that the haplogroup defining mutations indicate a common ancestor, not de novo separate mutations. That’s why analysis has to be completed on each candidate branch.

How do Mitochondrial DNA Branches Work?

If you are a member of haplogroup J1c2f today, and a certain number of people in that haplogroup have another common mutation, that new mutation may be assigned the designation of 1, as in J1c2f1, where anyone in haplogroup J1c2f who has that mutation will be assigned to J1c2f1.

While the alternating letter/number format is very easy to follow, some problems and challenges do exist with the alternating letter/number haplogroup naming system.

The Name of the Game

The letter number system works fine if not many new branches are added, branches don’t shuffle and if the growth is slow. However, that’s not the case anymore.

If you recall, back in July of 2012, which is equivalent to the genetic dark ages (I know, right), the Y tree was also represented with the same type of letter number terminology used on the mitochondrial tree today.

For example, Y DNA haplogroup R-M269 was known as R1b1a2, and before that the same haplogroup was known as R1b1c. The changes occurred because so many new haplgroups were being discovered that a new sprout wasn’t added from time to time, but entire branches had to be sawed off and either discarded or grafted elsewhere. It became obvious that while the R1b1a2 version was nice, because it was visually obvious that R1b1a2a was just one step below R1b1a2, that long term, that format just wasn’t going to be able to work anymore. New branches weren’t just sprouting, wholesale shuffling was occurring. Believe it or not, we’re still on the frontier of genetic science.

In 2012, the change to the SNP based haplogroup designations was introduced by Family Tree DNA, and adopted within the community.

The ISOGG tree, the only tree that still includes the older letter/number system and creates extended letter number haplogroup names as new SNPs are added provides us with an example of how much the Y tree has grown.

You can see that the letter/number format haplogroups to the far right are 19 locations in length. The assigned SNP or SNPs associated with that haplogroup are shown as well. Those 19-digit haplogroup names are just too unwieldy, and new haplogroups are still being discovered daily.

It’s 2012 All Over Again

That’s where we are with mitochondrial DNA today, but unlike Y DNA naming, a vendor can’t just make that change to a terminal SNP based naming system because all vendors conform to the published Phylotree.

However, in this case, the vendor, Family Tree DNA has more than 6 times the number of full sequence mitochondrial results than the mitochondrial reference model Phylotree. If you look at the haplogroup projects at Family Tree DNA, you’ll notice that (some) administrators routinely group results by a specific mutation that is found within a named haplogroup, meaning that the people with the mutation form a subgroup that they believe is worthy of its own haplogroup subgroup name. The problem is that unless enough people upload their results to Phylotree, that subgroup will never be identified, so a new haplogroup won’t be added.

If the entire Family Tree DNA data base were to be uploaded to Phylotree, can you imagine how many new haplogroups would need to be formed? Of course, Family Tree DNA can’t do that, but individual testers can and should.

Challenges for Vendors

The challenge for vendors is that every time the phylotree tree is updated and a new version is produced, the vendors must “rerun” their existing tester samples against the new haplogroup defining mutations to update their testers’ haplogroup results.

In some cases, entire haplogroups are obsoleted and branches moved, so it’s not a simple matter of just adding a single letter or digit. Rearranging occurs, and will occur more and more, the more tests that are uploaded to Phylotree.

For example, in the Phylotree V17 update, haplogroup A4a1 became A1a. In other words, some haplogroups became entirely obsolete and were inserted onto other branches of the tree.

In the current version of the Phylotree, haplogroup A4 has been retired.

Keep in mind that all haplogroup assignments are the cumulative combination of all of the upstream direct haplogroups. That means that haplogroup A4a1, in the prior version, had all of the haplogroup defining mutations shown in bold in the chart below. In the V17 version, haplogroup A1a contains all of the mutations shown in bold red. You might notice that the haplogroup A4 defining mutation T16362C is no longer included, and haplogroup A4, plus all 9 downstream haplogroups which were previously dependent on T16362C have been retired. A4a1 is now A1a.

Taking a look at the mitochondrial tree in pedigree fashion, we can see haplogroup A4a1 in Build 15 from September 2012, below.

Followed by haplogroup A1a in the current Build 17.

Full Sequence Versus Chip Based Mitochondrial Testing

While Family Tree DNA tests the full sequence of their customers who purchase that level of testing, other vendors don’t, and these changes wreak havoc for those vendors, and for compatibility for customer attempting to compare between data bases and information from different vendors.

That means that without knowing which version of Phylotree a vendor currently uses, you may not be able to compare meaningfully with another user, depending on changes that occurred that haplogroup between versions. You also need to know which vendor each person utilized for testing and if that vendor’s mitochondrial results are generated from an autosomal style chip or are actually a full mitochondrial sequence test. Utilizing the ISOGG mtDNA testing comparison chart, here’s a cheat sheet.

Vendor No Mitochondrial Chip based haplogroup only mitochondrial Full Sequence mitochondrial
Family Tree DNA No Yes – V17
23andMe Yes – Build V7 No
Ancestry None
LivingDNA Yes – Build V17 No
MyHeritage None
Genographic V2 Yes – Build V16 No

Of the chip-based vendors, 23andMe is the most out of date, with V7 extending back to November of 2009. The Genographic Project has done the best job of updating from previous versions. LivingDNA entered the marketplace in 2016, utilizing V17 when they began.

Family Tree DNA’s mitochondrial test is not autosomal chip based, so they don’t encounter the problem of not having tested needed locations because they test all locations. They have upgraded their customers several times over the years, with the current version being V17.

Family Tree DNA’s mitochondrial DNA test is a separate test from their Family Finder autosomal test while the chip-based vendors provide a base-level haplogroup designation that is included in their autosomal product. However, for chip-based vendors, updating that information can be very challenging, especially when significant branch changes occur.

Let’s take a closer look.

Challenges for Autosomal Chip-Based Vendors Providing Mitochondrial Results

SNP based mitochondrial and Y DNA testing for basic haplogroups that some vendors include with autosomal DNA is a mixed blessing. The up side, you receive a basic haplogroup. The down aide, the vendor doesn’t test anyplace near all of the 16,569 mitochondrial DNA SNP locations.

I wrote in detail about how this works in the article, Haplogroup Comparisons Between Family Tree DNA and 23andMe. Since that time, LivingDNA has also added some level of haplogroup reporting through autosomal testing.

How does this work?

Let’s say that a vendor tests approximately 4000 mitochondrial DNA SNPs on the autosomal chip that you submit for autosomal DNA testing. First, that’s 4000 locations they can’t use for autosomal SNPs, because a DNA chip has a finite number of locations that can be utilized.

Secondly, and more importantly, it’s devilishly difficult to “predict” haplogroups at a detailed level correctly. Therefore, some customers receive a partial haplogroup, such as J1c, and some receive more detail.

It’s even more difficult, sometimes impossible, to update haplogroups when new Phylotree versions are released.

Why is Haplogroup Prediction and Updating so Difficult?

The full mitochondrial DNA sequence is 16,569 locations in length, plus or minus insertions and deletions. The full sequence test does exactly what that name implies, tests every single location.

Now, let’s say, by way of example, that location 10,000 isn’t used to determine any haplogroup today, so the chip-based vendors don’t test it. They only have room for 4000 of those locations on their chip, so they must use them wisely. They aren’t about to waste one of those 4000 spaces on a location that isn’t utilized in haplogroup determination.

Let’s say in the next release, V2, that location 10,000 is now used for just one haplogroup definition, but the haplogroup assignment still works without it. In other words, previously to define that haplogroup, location 9000 was used, and now a specific value at location 10,000 has been added. Assuming you have the correct value at 9,000, you’re still golden, even if the vendor doesn’t test location 10,000. No problem.

However, in V3, now there are new haplogroup subgroups in two different branches that use location 10,000 as a terminal SNP. A terminal SNP is the last SNP in line that define your results most granularly. In haplogroup J1c2f, the SNP(s) that define the f are my terminal SNPs. But if the vendor doesn’t test location 10,000, then the mutation there can’t be used to determine my terminal SNP, and my full haplogroup will be incomplete. What now?

If location 10,000 isn’t tested, the vendor can’t assign those new haplogroups, and if any other haplogroup branch is dependent on this SNP location, they can’t be assigned correctly either. Changes between releases are cumulative, so the more new releases, the further behind the haplogroup designations become.

Multiple problems exist:

  • Even if those vendors were to recalculate their customer’s results to update haplogroups, they can’t report on locations they never tested, so their haplogroup assignments become increasingly outdated.
  • To update your haplogroup when new locations need to be tested, the vendor would have to actually rerun your actual DNA test itself, NOT just update your results in the data base. They can’t update results for locations they didn’t test.
  • Without running the full mitochondrial sequence, the haplogroup can never be more current than the locations on the vendor’s chip at the time the actual DNA test is run.
  • No vendor runs a full sequence test on an autosomal chip. A full mitochondrial sequence test at Family Tree DNA is required for that.
  • Furthermore, results matching can’t be performed without the type of test performed at Family Tree DNA, because people carry mutations other than haplogroup defining mutations. Haplogroup only information is entertaining and can sometimes provide you with base information about the origins of your ancestor (Native, African, European, Asian,) but quickly loses its appeal because it’s not specific, can’t be used for matching and can’t reliably be upgraded.

The lack of complete testing also means that while Family Tree DNA can publish this type of tree and contribute to science, the other vendors can’t.

Let’s take a look at Family Tree DNA’s new tree.

Finding the Tree

To view the tree, click here, but do NOT sign in to your account. Simply scroll to the bottom of the page where you will see the options for both the Y DNA Haplotree and the mtDNA Haplotree under the Community heading.

Click on mtDNA Haplotree.

If you are a Family Tree DNA customer, you can view both the Y and mitochondrial trees from your personal page as well. You don’t have to have taken either the Y or mitochondrial DNA tests to view the trees.

Browsing the mtDNA Tree

Across the top, you’ll see the major haplogroups.

I’m using haplogroup M as an example, because it’s far up the tree and has lots of subgroups. Only full sequence results are shown on the tree.

The basic functionality of the new mitochondrial tree, meaning how it works, is the same as the Y tree, which I wrote about in the Family Tree DNA’s PUBLIC Y DNA Haplotree.

You can view the tree in two formats, countries or variants, in the upper left-hand corner. View is not the same thing as search.

When viewing the mitochondrial DNA phylotree by country, we see that haplogroup M has a total of 1339 entries, which means M and everything below M on the tree.

However, the flags showing in the M row are only for people whose full mitochondrial sequence puts them into M directly, with no subgroup.

As you can see, there are only 12: 6 people in Australia, and one in 5 other countries. These are the locations of the most distant known ancestor of those testers. If they have not completed the maternal Country of Origin on the Earliest Known Ancestor tab, nothing shows for the location.

Viewing the tree by variant shows the haplogroup defining mutations, but NOT any individual mutations beyond those that are haplogroup defining.

For each haplogroup, click on the three dots to the right to display the country report for that haplogroup.

The Country Report

The Country Report provides three columns.

The column titled Branch Participants M shows only the total of people in haplogroup M itself, with no upstream or downstream results, meaning excluding M1, M2, etc. Just the individuals in M itself. Be sure to note that there may be multiple pages to click through, at bottom right.

The second column, Downstream Participants – M and Downstream (Excluding other Letters) means the people in haplogroup M and M subclades. You may wonder why this column is included, but realize that branches of haplogroup M include haplogroups G, Q, C, Z, D and E. The middle column only includes M and subgroups that begin with M, without the others, meaning M, M10, M11 but not G, Q, etc.

Of course the final column, All Downstream Participants – M and Downstream (Including other Letters) shows all of the haplogroup M participants, meaning M and all subclades, including all other haplogroups beneath M, such as M10, G, Q, etc..

What Can I Do with This Information?

Unlike the companion Y tree DNA, since surnames change every generation for maternal lineages, there is no requirement to have multiple matching surnames on a branch to be displayed.

Therefore, every person who includes a location for a most distant known ancestor is included in the tree, but surnames are not.

I want to see, at a glance, where the other people in my haplogroup, and the haplogroups that are the “direct ancestral line” of mine are found today. Clusters may mean something genealogically or are at least historically important – and I’ll never be able to view that information any other way. In fact, before this tree was published, I wasn’t able to see this at all. Way to go Family Tree DNA!!

It’s very unlikely that I’ll match every person in my haplogroup – but the history of that haplogroup and all of the participants in that haplogroup are important to that historical lineage of my family. At one time, these people all shared one ancestor and determining when and where that person lived is relevant to my family story.

Searching for Your Haplogroup

I’m searching for haplogroup J1c2f by entering J1c2f in the “Go to Branch Name.”

There it is.

I can see that there are 17 people in Sweden, 13 in Norway, 5 in Germany, 3 in Russia, etc. What’s with the Scandinavian cluster? My most distant known ancestor was found in Germany. There’s something to be learned here that existing records can’t tell me!

The mother branch is J1c2 which shows the majority of individuals in Ireland followed by England. This probably suggests that while J1c2f may have been born in Scandinavia, J1c2 probably was not. According to the supplement to Dr. Doron Behar’s paper, A “Copernican” Reassessment of the Human Mitochondrial DNA tree from its Root, which provides ages for some mitochondrial DNA haplogroups:

Haplogroup How Old Standard Deviation Approximate Age Range in Years
J1c2 9762 2010 7,752 – 11,772
J1c2f 1926 3128 500 – 5,054

I happen to know from communicating with my matches that the haplogroup J1c2f was born more than 500 years ago because my Scandinavian mito-cousins know where their J1c2f cousin was then, and so do I. Mine was in Germany, so we know our common ancestor existed sometime before that 500 year window, and based on our mutations and the mutation tree we created, probably substantially before that 500 year threshold.

Given that J1c2, which doesn’t appear to have been born in Scandinavia is at least 7,700 years old, we can pretty safely conclude that my ancestor wasn’t in Scandinavia roughly 9,000 years ago, but was perhaps 2,000 years, ago when J1c2f was born. What types of population migration and movement happened between 2,000 and 9,000 years ago which would have potentially been responsible for the migration of a people from someplace in Europe into Scandinavia.

The first hint might be that in the Nordic Bronze Age, trade with European cultures became evident, which of course means that traders themselves were present. Scandinavian petroglyphs dating from that era depict ships and art works from as far away as Greece and Egypt have been found.

The climate in Scandinavia was warm during this period, but later deteriorated, pushing the Germanic tribes southward into continental Europe about 3000 years ago. Scandinavian influence was found in eastern Europe, and numerous Germanic tribes claimed Scandinavian origins 2000 years ago, including the Bergundians, Goths, Heruls and Lombards.

Hmmm, that might also explain how my mitochondrial DNA, in the form of my most distant known ancestor arrived in Germany, as well as the distribution into Poland.

Is this my family history? I don’t know for sure, but I do know that the clustering information on the new phylotree provides me with clustering data to direct my search for a historical connection.

What Can You Do?

  • Take a full mitochondrial DNA test. Click here if you’d like to order a test or if you need to upgrade your current test.
  • Enter your Earliest Known Ancestor on the Genealogy tab of your Account Information, accessed by clicking the “Manage Personal Information” beneath your profile photo on your personal page.

The next few steps aren’t related to actually having your results displayed on the phylotree, but they are important to taking full advantage of the power of testing.

  • While viewing your account information, click on the Privacy and Sharing tab, and select to participate in matching, under Matching Preferences.

  • Also consent to Group Project Sharing AND allow your group project administrators to view your full sequence matches so that they can group you properly in any projects that you join. You full sequence mutations will never be shown publicly, only to administrators.

Of course, always click on save when you’re finished.

  • Enter your most distant ancestor information on your Matches Map page by clicking on the “Update Ancestor’s Location” beneath the map.

  • Join a project relevant to your haplogroup, such as the J project for haplogroup J. To join a project, click on myProjects at the top of the page, then on Join Projects.

  • To view available haplogroup projects, scroll down to the bottom of the screen that shows you available projects to join, and click on the letter of your haplogroup in the MTDNA Haplogroup Projects section.

  • Locate the applicable haplogroup, then click through to join the project.

These steps assure that you’ve maximized the benefits of your mitochondrial results for your own research and to your matches as well. Collaborative effort in completing geographic and known ancestor information means that we can all make discoveries.

The article, Working with Mitochondrial DNA Results steps you through you all of the various tools provided to Family Tree DNA testers.

Now, go and see who you match, where your closest matches cluster, and on the new mtDNA Haplotree, what kind of historical ancestral history your locations may reveal. What’s waiting for you?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Family Tree DNA’s PUBLIC Y DNA Haplotree

It’s well known that as a result of Big Y testing that Family Tree DNA has amassed a huge library of Y DNA full sequence results that have revealed new SNPs, meaning new haplotree branches, for testers. That’s how the Y haplotree is built. I wrote about this in the article, Family Tree DNA Names 100,000 New Y DNA SNPs.

Up until now, the tree was only available on each tester’s personal pages, but that’s not the case anymore.

Share the Wealth

Today, Family Tree DNA has made the tree public. Thank you, thank you, THANK YOU Family Tree DNA.

To access the tree, click here, but DON’T sign in. Scroll to the bottom of the page. Keep scrolling, and scrolling…until you see the link under Community that says “Y-DNA Haplotree.” Click there.

The New Public Haplotree

The new public haplotree is amazing.

This tree isn’t just for people who took the Big Y test, but includes anyone who has a haplogroup confirming SNP OR took the Big Y test. Predicted haplogroups, of course, aren’t included.

Each branch includes the location of the most recent known ancestor of individuals who carry that terminal SNP, shown with a flag.

The branches are color coded by the following:

  • Light blue = haplogroup root branches
  • Teal or blue/green = branches with no descendants
  • Dark blue = branches that aren’t roots and that do have at least one descendant branch

The flag location is determined by the most distant known ancestor, so if you don’t have a “Most Distant Known Ancestor” completed, with a location, please, please, complete that field by clicking on “Manage Personal Information” beneath your profile picture on your personal page, then on Genealogy, shown below. Be sure to click on Save when you’re finished!

View Haplotree By

Viewing the haplotree is not the same as searching. “View by” is how the tree is displayed.

Click on the “View By” link to display the options: country, surnames or variant.

You can view by the country (flags), which is the default, the surname or the variants.

Country view, with the flags, is the default. Surname view is shown below.

The third view is variant view. By the way, a variant is another word for SNP. For haplogroup R-M207, there are 8,202 variants, meaning SNPs occurring beneath, or branches.

Reports

On any of the branch links, you’ll see three dots at the far right.

To view reports by country or surname, click on the dots to view the menu, then click on the option you desire.

Country statistics above, surname below. How cool is this!

Searching

The search function is dependent on the view currently selected. If you are in the surname view, then the search function says “Search by Surname” which allows you to enter a surname. I entered Estes.

If I’m not currently on the haplogroup R link, the system tells me that there are 2 Estes results on R. If I’m on the R link, the system just tells me how many results it found for that surname on this branch and if there are others on other branches.

The tree then displays the direct path between R-M207 (haplogroup R root) and the Estes branch.

…lots of branches in-between…

The great thing about this is that I can now see the surnames directly above my ancestral surname, if they meet the criteria to be displayed.

Display criteria is that two people match on the same branch AND that they both have selected public sharing. Requiring two surnames per branch confirms that result.

If you want to look at a specific variant, you can enter that variant name (BY490) in the search box and see the surnames associated with the variant. The click on “View by” to change the view from country (maps) to surnames to variants.

Change from country to surname.

And from surname to variants.

What geeky fun!!!

Go to Branch Name

If you want to research a specific branch, you can go there directly by utilizing the “Go to Branch Name” function, but you must enter the haplogroup in front of the branch name. R-BY490 for example.

When you’re finished with this search, REMOVE THE BRANCH NAME from the search box, if you’re going to do any other searches, or the system thinks you’re searching within that branch name.

My Result Isn’t Showing

In order for your results to be included on the tree, you must have fulfilled all 3 of these criteria:

  • Taken either a SNP or Big Y test
  • Opted in for public sharing
  • More than one result for that branch with the same exact surname

If you think your results should be showing and they aren’t, check your privacy settings by clicking the orange “Manage Personal Information” under your profile picture on your main page, then on the Privacy and Sharing tab.

Still not showing? See if you match another male of the same surname on the Big Y or SNP test at the same level.

If your surname isn’t included, you can recruit testers from that branch of your family.

How Can I Use This?

I’m like a kid with a new toy.

If any of your family surnames are rather unique, search to see if they are on the tree.

Hey look, my Vannoy line is on haplogroup I! Hmmm, clear the schedule, I’m going to be busy all day!

Every haplogroup has a story – and that story belongs to the men, and their families, who carry that haplogroup! I gather the haplogroups for each of my family surnames and this public tree just made this task much, MUCH easier.

Discovering More

If the testers have joined the appropriate surname project, you may also be able to find them in that project to see if they descend from a common line with you. To check and see, click here and then scroll down to the “Search Surname” section of the main Family Tree DNA webpage and enter the surname.

You can see if there is a project for your surname, and if not, your surname may be included in other projects.

Click on any of those links to view the project or contact the (volunteer) project administrators.

Want to search for another surname, the project search box is shown at the right in this view.

What gems can you find?

Want to Test?

If you are a male and you want to take the Big Y test or order a haplogroup confirming SNP, or you are a female who would like to sponsor a test for a male with a surname you’re interested in, you can purchase the Big Y test, here. As a bonus, you will also receive all of the STR markers for genealogical comparison as well.

Wonder what you can learn? You will be searching for matches to other males with the same surname. You can learn about your history. Confirm your ancestral line. Learn where they came from. You can help the scientific effort and contribute to the tree. For more information, read the article, Working with Y DNA – Your Dad’s Story.

Have fun!!!

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

 

 

 

 

Heinsmann (Heinrich) Muller (<1635 – <1684) of Schwarzenmatt, Switzerland – 52 Ancestors #208

The 1684 Miesau, Germany marriage record of Johann Michael Muller, widower, to Irene Liesabetha Heitz identified him as, “Michael Müller, legitimate son of the deceased Heinsmann Müller, resident of Schwartz Matt in the Bern area.” Of course, Bern is in Switzerland.

Thank goodness for the location and name of Michael’s father, because without those tidbits, we would never have found that information and Michael would have been our dead end.

Schwarzenmatt, Switzerland

My trusty friends Chris and Tom drilled down on the available information to determine what could be discovered. Chris says:

“Schwarzmatt” is/was part of the church books of Boltigen.

The Boltigen church books are online here among the Bern area church books:

So it should be possible to verify if there was a Michael Müller, son of a Heinsmann Müller in Schwarzmatt.

Heinsmann is a very unusual name. My friend Chris has been researching the Boltigen Muller family on my behalf and he contacted Konstantin Huber who had searched for the Millers from that area years ago. Konstantin didn’t have additional information about the Boltigen family but did state that “Heinsmann” is a rare, old-fashioned form of “Heinrich” that he has never seen before in the 16th/17th century church books from Switzerland. Hence, he suggests that the original name of Michael Müller`s father in Switzerland may have been “Heinrich” and was maybe changed to or simply recorded as “Heinsmann” in the German Palatinate. Chris believes that with Konstantin`s decades of experience on Swiss emigration to Germany that this is a valid suggestion, and I agree.

Chris continues:

I also found that a daughter of a Müller from Boltigen married in Dudweiler, Sulzbach, Saarland, Germany:

“Am 03.05.1718 wird Anna Magdalena Müller, Tochter des …. Müller aus Boltigen im oberen Simmental, Kanton Bern in der Schweiz, dem Johann Jakob Blatter, Sohn von Michael Blatter und Maria Mögel auf Neuweiler Hof, angetraut.”

On the page http://www.rolf-freytag.de/fhilfe/schweizer.html about Swiss immigrants in Saarland, you will find this in the first half of the page (and a few records below a Hans Stutzmann in Völklingen).

Chris subsequently discovered another document discussing the Muller family in Schwarzenmatt.

In the description of the old house in Schwarzenmatt it is stated on the first page:

“Vor 1615 gab es im Dorf Schwarzenmatt nur wenige Hofstätten. Mit Sicherheit lassen sich bloss deren vier nachweisen, dazu gehörte auch das Haus auf der Kreuzgasse. Wie Eintragungen in den Kirchenbüchern zeigen, besass stets die gleiche Familie Müller dieses Haus, mindestens seit 1700; im Jahr 1872 verkaufte aber David Müller den ganzen Besitz seinem «Tochtermann» Friedrich Bhend, der 1868 von Unterseen nach Schwarzenmatt geheiratet hatte.”

Translated to: “Prior to 1615 there were only few houses in the village Schwarzenmatt. We can only safely verify four, among them the house in the Kreuzgasse. As records in the church books show, this house was always owned by the same family Müller, at least since 1700; but in the year 1872 David Müller sold the entire property to his son-in-law Friedrich Bhendd, who, coming from Unterseen, married to Schwarzenmatt in 1868.”

I am aware this is very weak evidence to assume a relationship to the Michael Müller family, but at the very least it goes to show that a Müller family was among the first in the village Schwarzenmatt.

If Heinsmann/Heinrich is identified as Johann Michael Muller’s father in 1684, and Michael was born in 1655, then we know that Heinsmann was born no later than 1635, and possibly significantly earlier in the 1600s. It’s only 20 years between 1615 and 1635.

What else did Chris find?

Here is a Margaretha Müller, born about 17 December 1696 in Boltigen-Adlemsried. She moved to Bruchsal-Heidelsheim (Northern Wurttemberg, close to the Palatinate), where she married on 6 May 1727 and died on 15 Feb 1728:

https://www.geneal-forum.com/tng/getperson.php?personID=I20189&tree=ce

I looked up the original marriage and burial record, but no further information on her family there.

If Michael Müller was a widower at the time he married Irene Liesabetha Heitz in 1684, who was his first wife? Did she die in Steinwenden or in the area or rather already back in Switzerland? Maybe it is worth to have another close look at those burials in the Miesau church book from 1681 to 1684 to maybe find her there?

Alas, there was nothing more in Miesau.

Tom found a 1681 Boltigen record where one Michael Muller married Anna Andrist.

Is this our Michael, son of Heinsmann/Heinrich? We don’t have any way of knowing. Parents weren’t listed in these early records. Michael would have been about 26, a typical age for a man to marry at that time. Right time, right name, right place.

What do we know about Schwarzenmatt? Was it large or small? How likely would it have been to find two Michael Mullers of about the same age?

The Village and the Valley

We do know one thing. We’re getting a lot closer to Michael Miller’s cousin, Jacob Ringeisen. In the Steinwenden, Germany records, Jacob is identified as Michael’s cousin and is stated as being from Erlenbach, Switzerland. Schwarzenmatt is only 17 km away, or about 10 miles down the same valley, on the one and only road.

Schwarzenmatt today is a tiny village – about 150 feet East to West.

Clicking on the red balloon shows us the Swiss vYntage Chalets of Schwarzenmatt nestled in the mountains.

Looking at property booking sites (yes you can rent the chalets,) this red pin location is billed as a 400 year old house. If this is indeed true, then that property dates back to 1618, and would be one of the 4 original properties. Heinsmann or Heinrich Muller would have known this house and assuredly, visited, even if it wasn’t his.

Another house nearby is billed as 325 years old, so dating from 1693 or not long after Heinrich had died.

You can see a variety of photos here and here. Just click on the photos at left.

This winter view is stunning, as is the summer one below.

I love old photos! This is similar to what Heinrich and Michael Muller would have seen.

These black and white photos, even though they are from the 1900s, give us at least a peek at what life was like in this valley before the modern era.

Did Michael and Heinrich ski? Was skiing a way for residents to navigate in the winter instead of a sport like it is today? Note that tiny house.

Are these my relatives? I’d bet that almost everyone in or from Schwarzenmatt is my relative!

The alps are breath-taking.

Be still my heart.

I surely wonder what these men were carrying, and why. Did Heinrich do this too? They kind of look like human trees.

Seriously, I want to walk down this street beside the chalets. The entire village is only a block or two. I want to under those umbrellas and drink in the luscious mountain air.

Going for a walk, perhaps? What are they carrying?

The chalets and valley are shown here in an early aerial photo.

The Muller family may have lived in this valley for centuries before the first recorded history that includes the surname in 1615.

This place is stunning, no matter the season.

I’m so grateful that these preserved chalets provide us with a glimpse through the door to the past.

Looking at this door, I do have to wonder if it’s original, meaning perhaps was found in the village when Heinrich lived there. Did he open it himself?

Where did Heinrich Muller actually live?

Historian Peter Mosimann

Just when you think it can’t get any better, it does.

Chris found Peter Mosimann who, as fate would have it, wrote a book about Schwarzenmatt and even more miraculously, owns the Muller chalet. Yes, THAT Muller chalet.

The book is out of print, but here’s the forward, translated from German by Google translate. This isn’t the best translation in the world, but it certainly conveys the idea.

In 2009, the couple Mosimann the Earning a parent’s home, a former mountain farmhouse at the Kreuzgasse in Schwarzenmatt Boltigen im Simmental, dating back to 1556 and certainly one of the oldest houses in the Bernese Oberland is at all. Since the spouses do not live here themselves you can take with the foundation «Holidays in the monument» of the Swiss Homeland Security concluded a license agreement for thirty years.

The foundation had the house renovated and refrained from advise the preservation of monuments. When planning the renovation the thought came to the future holiday guests to make a booklet out of which they have something about the past of the house, the place and the valley could learn. This is now an extensive book from over 340 densely written pages, that you read with great pleasure and profit – even if you are not a holiday guest in Schwarzenmatt.

It is dedicated to Mrs. Mosimann by her husband, who since 2009 innumerable archives visited, innumerable books read and interviewed countless people.

Is in itself the approach of the couple Mosimann – the purchase of the house and its conversion – very much correct and praiseworthy, so does the book the whole still the crown on. Not only was the house saved, but also his story, including the story of one whole valley. Peter Mosimann has been through many sources worked, so to only the most extensive series to name, through twelve choral court manuals the Congregation Boltigen (1648-1875) and six choral court manuals the parish of Oberwil im Simmental (1587-1768) and thirteen parish registers of Boltigen (1556-1875) and fifteen from Oberwil (1562-1875). He has cleverly understood the “little” stories, which he found here to be associated with the “big” story, which he drew from the secondary literature. On example: standing in the gable triangle of the rescued house the year 1556 – at that time Emperor Charles V thanked Habsburg, in whose empire the sun never set, and set up the first parish register in Boltigen (page 30).

Everywhere you can feel the ordering hand of the former Secondary teacher.

The fact that at the house on the Kreuzgasse the former Saumweg led into Jauntal, not over the Jaunpass, but over the Reidigenpass, gives rise for a whole nice chapter about the traffic history. This is very clever with old and new.

Illustrated are photos showing tracks in the terrain sees who would miss out on the terrain itself.

The road led to Jauntal, the catholic («idolatrous») remained and for the severely reformed disciplined Simmentaler the country of vice – but also the temptations and pleasures par excellence – represented. But you also like reading the chapter about the “companions”, as there are: restaurants, Mills, saws, forges, a lime kiln, cheese dairies (initiated by Welschen Greyerzern!), school houses, castle ruins and stones. It’s not just the good, but also the bad old time to the language, alcoholism, the poor, home and child labor, at the for a few cents matches for the matches were produced in Wimmis.

The result is a home customer in the best, namely in the critical sense of the word.

Peter Mosimann is not content with the old one time, but asks to the present. He speaks from the revival of livestock in the Simmental in the 19th century, from the introduction of electricity and the damming of the simme. He is very well aware that in today’s, rushing changes a whole world to disappear threatens, and he therefore has older Simmentaler asked about their knowledge and memories, so operated “oral history”. A nice example is the reconstruction a mining year around 1960, probably with the help of his wife and in-laws. Only here it becomes clear how far already 1960 – not 1860 and also not 1760! – is past. Especially nice and consistent is when people each speak for themselves: one Hemmer sitting in a tavern in Freiburg had shared the bed a bit too much (p. 94), the Daughter of the Wegmeisters Eschler, in the first half of the 20th century for the maintenance of the Jaun pass was responsible (p. 111 f.), the last geisshirt of Eschi (p.180 f.) Or Peter Mosimann’s wife Berti itself, from which the last chapter comes, that the house is dedicated in Schwarzenmatt. Or from the pastor of Boltigen, who died during the plague at the end of the 16th / beginning of the 17th century. Century not only lost all his children, but also three wives (pp. 12 f.). So sad this last one.

History is – you can Mr. Mosimann to his just congratulate factory.

State Archives Freiburg

PD Dr. phil. Kathrin Utz Tremp

Scientific Associate

In essence, we can thank the ski industry today for encouraging the salvation of these old chalets.

These lifts are only a few miles away and tourists need a place to say. Who wouldn’t love to stay in an alpine chalet?

The Swiss Alps tower above Schwarzenmatt and Boltigen.

The Muller Chalet

Chris found several links, and more information. This photo taken about 1912 in front of the chalet shows:

“Susanna Katharina and Friedrich Bhend-von Allmen with their children Fritz, Karl and Hans.”

Peter Mosimann’s wife’s father was Hans Bhend, so Susanna Katherine was apparently a Miller by birth, perhaps a descendant or at least a relative of Heinrich Muller from the middle 1600s. I would so love to see if my mother or other Miller descendants would match her DNA!

This house was built in about 1556 and was in the Muller/Miller family from before 1615. I can’t help but wonder how the date of 1556 was established. Perhaps by tree ring dating of the wood (dendrochronology.)

There is no ownership record before the Muller family, so they could have built it. In 1872, David Muller sold the property to his son-in-law, Freidrich Bhendd. Peter Mosimann’s wife was born a Bhend and grew up in this same house, shown above.

The article, in German, also shows additional photos.

I can’t reproduce the article here, but I can summarize.

Peter Mosiman, the local historian, states that this is one of the earliest dated peasant residential buildings in Boltigen and perhaps in all of the Bernese Oberland.

The sunny location where the house was built was on the mule track over the ridge to Juan and then to Gruyere, although the translation suggests that the house was on the path to Juantel, which I cannot locate on a current map.

I do wonder this this village was a stop-over location, and people rested the mules at this farmstead.

The ancient Juanpass through the mountains is first mentioned in 1228 as Balavarda and again in 1397 as Youn. Was the Muller family here then? What originally brought them to this high, remote location, and when?

The road was paved in 1878 and today is on the list of the highest paved roads in the world. Looking at the map, you can see the switchbacks. The pass peaks at just below 5,000 feet, the ascent 8 miles long and rising almost 2000 feet.

By Norbert Aepli, Switzerland, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=807797

Take a look from the pass here.

The photo of the pass, above, is exactly how I remember the Alps.

Here’s the same map with Gruyere, on the other side of the mountain, added.

I have to stop and admit right here that I love the Alps. And I mean LOVE them with all caps. I spent an amazing, life-changing summer in 1970 living in Versoix, Switzerland and spending time in those beautiful mountains and meadows not far from this very location. If you could see across the mountaintops, I lived about 25 miles as the crow flies. I know, what are the chances??

The summer in ski resorts is an inactive time. I spent a month or more there, hiking and wandering the beautiful alpine meadows. Today that resort is Crans-Montana, but then it was a sleepy, tiny Swiss mountain village.

The fact that my family actually originates here stirs my heart and touches my soul in a way I simply cannot put into words. It feels like my ancestors reached out to me, infusing their love of these mountains, even though I didn’t know them then.

But back to the Muller chalet.

Peter Mosimann says that he has documented the house ownership back to at least 1700 in the Muller family. Clearly, Heinrich lived in Schwarzenmatt in the first half of the 1600s. He would have been born either in or before 1635, probably right in this village or at least this valley. Most likey in this peasant house.

The walls were wood and stone that came from the surrounding area. Some stones are outcrops of the mountainside on which the house perches. The stones were connected with lime mortar and whitewashed. A stable was connected to the house, and the “goat-lick” still survives and is shown in photos in the document. Do you know what a goat-lick is? Neither did I!

The ground floor originally only had one small room. A “smoke kitchen” allowed the smoke to drift up between the slats in the rafters where meats were hung to be smoked and cured. The beams there are still black with centuries of accumulated soot.

Water came from the village well or fountain. Schwarzenmatt was lucky and had their own well. Kreuzgasse, the street where this chalet is located had their own fountain.

When I hiked the Alps, we drank from the icy-cold streams, although we were warned about drinking only near the headwaters because mountain goats tended to contaminate the water. We didn’t worry much about that.

In the Muller chalet, it appears that there was a loft type of structure upstairs where the children slept. They warmed some type of sack on the stove and took it to bed with them. Of course, as a quilter, today I think of this in terms of a quilt.

The original windows were sold at some time and installed in a restaurant in Obersimmental, about 10 miles distant. The homeowners thought they got the better end of that deal, because they installed new windows which were surely more winter-resistant, weathertight and warmer.

Clothes and dishes were washed in a basin on the table, and clothes were dried on a wooden rod in the kitchen.

Plums, pears and apples were dried for the winter to go along with the smoked meats.

Peter says that the renovation exposed 1705 construction with holes in posts suggesting that earlier building had occurred and the 1705 construction itself was either an expansion or a remodel. A stable was added at that time to house 4-6 goats and two pigs.

A cheese tower yet preserved shows that cheese was manufactured on this farm. Three circular pieces of wood are attached to a pole set in stone and connected to the rafters.

Chris located a photo before the renovation occurred.

Drum roll please…here’s the beautiful chalet today from a different angle. And look, just look at those mountains.

This chalet even has its own Wikipedia entry. At this link, you can see what it looks like in the winter. Another photo here and the renovation here.

The Muller Chalet, shown with the red pin below, is almost next door to the Swiss Vyntage Chalets I first found on the booking site.

I can’t tell you how much I want to visit this location and see the Muller chalet in person. Actually, I don’t just want to see it, I want to stay and sleep there, basking in the ancestral glow.

Johann Michael Muller

We know that Michael Muller, a widower, who married in 1684 in Steinwenden was from Schwarzenmatt. We know that a Michael Muller married in Boltigen in 1681 in the church where the Schwarzenmatt residents attended. There was no other church in the valley. The question is, is this the same Michael Muller?

This area was very small at the time, not to mention remote. Chances are very good that the Michael who married Anna Andrist was the same Michael Muller, but there could have been more than one. We also know that our Michael’s father was Heinrich, recorded as Heinsmann in Germany, who was from the tiny block long village of Schwarzenmatt.

In Switzerland, when a resident left, they were required to register. In essence, they carried a lifelong passport with them and as long as they left in good standing, they could always return as a citizen.

Those rolls were called Mannrechten and they exist for 1694-1754 from the Bern region. Of course, that’s after our Michael left, but several Millers from Boltigen were listed. Chris checked with the archives, and has kindly translated their reply, as follows:

– There are no “Mannrechtsrodel” earlier than 1694, so probably no direct proof of Michael Müller`s emigration to Germany.

– Mr. Bartlome (archivist) writes that at the time no permission was required to leave Switzerland. However, there was a heavy tax on money transferred abroad (“Abzugsgelder”). If an emigrant transferred money abroad, at the same time the emigrant passed on their citizen rights in Switzerland. This was done to prevent the emigrants possibly returning to Switzerland later on as a poor person.

– Only around 1700 an alphabetical name register was started for Swiss citizens who passed on their citizen rights. The register (listed in the link above,) is such a register. Please note that this passing on citizen rights could be done by children or grandchildren of the original emigrant! So the listed persons are not necessarily the emigrating persons!

– The register does not list the emigration date, but the date on which the citizen rights were passed on, plus the money that was transferred abroad and to which place.

– Finally, Mr Bartlome notes that emigrants may also be found in the protocols of the Bern government (“Ratsmanuale”). The transferred money (“Abzugsgelder”) was also listed in bills of the bailiffs (“Rechnungen der Landvögte”). So this may be another way to find emigrants in old documents, but it is a tedious process and with no guarantee.

As Chris comments, clearly not what we had hoped, but still, the door isn’t entirely slammed shut.

Chris later discovered a list of Swiss emigrants from 1694-1754 who settled in the Palatinate, Alsace-Lorraine, Baden-Wurttemberg and Pennsylvania in an article by Kary Joder in the October 1983 Mennonite Family History Newsletter, Volume II, #4, available in the book section at Family Search. In this document, one Michael Miller is noted on page 136, along with Miller men from Boltigen, as follows:

Chris wondered where my Johann Michael Miller the second, the son of the original Johann Michael Miller, from Schwarzenmatt, was located in 1720.

Chris translates from the original German version:

“2.12.1720 Michel Müller von hinter Zweisimmen zieht nach Leistadt (Bad Dürkheim).”

Translation: “2 December 1720 – Michel Müller from behind Zweisimmen moves [read: “his money”!] to Leistadt (Bad Dürkheim).”

Could this Michel Müller possibly be identical with Michael Müller the Second? I am not as familiar with his life dates as you are, so I have to ask you if this remains a possibility. I know that in 1721 he became a citizen in Lambsheim. Lambsheim and Leistadt are 8.5 miles apart from each other. Do we know for sure that in 1720 Michael Müller the Second was still in Steinwenden or was he maybe “on his way” to Lambsheim?

“From behind Zweisimmen” suggests to me that possibly this Michel Müller could not name the place of origin of his father. “Behind Zweisimmen” would definitely go well along with Schwarzenmatt. Zweisimmen and Schwarzenmatt/Boltigen are only 6 miles apart from each other.

It’s amazing how quickly ancestral knowledge of locations and events fades. By 1720, Michael Muller the first had been dead for 25 years, having died when his son was only 2 years and 3 months old. It’s no wonder that Michael Muller the second couldn’t remember the name of the town in Switzerland where his father was from. He never knew his father – only through his mother’s remembrances.

In April of 1718, Johann Michael Muller (the second) is identified as the farm administrator of (the farm) Weilach in a baptismal record for his child in Kallstadt. He is still living in Weilach on April 5th, 1721, but by January 15, 1722, when he is once again mentioned in a Kallstadt baptism record where he stands up as a godparent, he is a Lambsheim resident about 12 miles distant from Weilach. Citizenship records tell us that Michael moved to Lambsheim between April and July of 1721.

As the map above illustrates, Leistadt is very close to Weilach and Kallstadt, both. It was less than a mile from Weilach to Leistadt, the closest village. Certainly close enough to walk. The Michael Muller on December 2, 1720 who moved money from Schwarzenmatt to Leistadt is very likely Michael Muller the second, son of the Michael Muller the first, son of Heinrich Muller. Perhaps he moved the funds in preparation for his move to Lambsheim. It was only a few years later that he emigrated to America.

Until that time, Michael Muller the second had been a Swiss citizen, although he was born in Germany.

Mullers in Boltigen and Schwarzenmatt

The Mullers were clearly visible in the Boltigen area, which includes Schwarzenmatt. Several (in addition to Michael) were mentioned in the Mennonite document that references moving money.

  • Muller, Benedicts from Boltigen to Eppingen-Churpfalz on November 29, 1726
  • Muller, Wolfgang from Boltigen to Maulbronn-Wurttemberg on May 6, 1732
  • Muller, Johannes from Boltigen to Horbach-Swiebrucken on March 14, 1754

These three Miller men transferred funds to the same region of Germany, near where Michael had moved.

Were all of these men from the same Muller family from Schwarzenmatt and Boltigen?

Were there multiple Miller families living in Schwarzenmatt or Boltigen by that time?

If so, did they descend from a common Miller ancestor, or different men that just happened to carry the same surname?

Is this the same Muller family that had a coat of arms awarded in 1683, right about the time Michael Muller the first is found in Germany?

The Miller family in Boltigen had a coat of arms awarded in 1683 which looks to be a cogged wheel of some sort, perhaps a miller’s wheel?

The history of German heraldry isn’t terribly helpful, except to say that noble coats of arms included a barred helmet, and burgher’s/patrician’s coats of arms included a tilted helmet. The Muller coat of arms includes neither, so this tells us that the family wasn’t noble. It’s noted that in Switzerland, in the 17th century, Swiss farmers also bore arms. Given that the Schwarzenmatt Muller family, as evidenced by the restored home, was clearly a farm family, the coat of arms isn’t as surprising as it might otherwise seem. I am very curious though at the meaning of the yellow symbol on the coat of arms and if the blue background has any significance. I also wonder if this coat of arms would have included “all” of the Muller family or clan, or only one specific family unit.

There’s no way, of course, without Y DNA testing or non-existent records to tell if this is the same family. The Boltigen church records were lost in a fire in 1840. I have a DNA testing scholarship for any Miller male from the Schwarzenmatt/Boltigen area, or whose ancestors lived there.

A painting, below, remains of the old Boltigen church and parsonage from 1822, before the fire. This would have been the church that Heinrich attended, and where Michael was married in 1681.

From this photo of the current church, built after the 1840 fire, it looks like the new church was built in the same location and in the exact same style and footprint as the old church.

By Roland Zumbuehl – Own work, CC BY 3.0, https://commons.wikimedia.org/w/index.php?curid=20634682

Boltigen is just down the valley, about a mile from Schwarzenmatt. A lovely Sunday walk to church.

You can walk home from church in half an hour, but of course, it’s uphill! Probably not very pleasant in the winter.

Schwarzenmatt was tiny then and it’s tiny now. Heinsmann (Heinrich) and Michael lived here – lost in time today, but not lost to memory anymore.

Leaving Schwarzenmatt

This part of the world is truly beautiful – nature at her finest. I wonder what compelled Heinrich’s son to leave. It’s certainly possible that the isolation was a factor. The family that lived in this house, with who knows how many children, were peasants, and their children would be peasants too. Perhaps Michael wanted something more. Perhaps he found no comfort here after his wife died. Did she pass away giving birth to their first child?

The Thirty Years’ War had devastated and depopulated most of the Palatine and the Swiss were invited to come and settle, tax free, with a promise of land. Looking at the tiny Swiss village, and having lived in the Alps, I understand that this area could only support a limited population and had little potential for expansion. The German offer meant, for Michael, that opportunity was knocking and perhaps providing an escape from the pain of his wife’s death.

Once Michael left Schwarzenmatt, given the distance to Steinwenden, he likely never returned, which meant he never saw his parents or family again. Perhaps both of Michael’s parents were deceased before he left. We know, according to his marriage record in 1684 that his father was already gone by that time, but what about his mother and siblings – assuming he had siblings?

Heinrich likely was born and died in Schwarzenmatt and is buried in the churchyard of the old church that burned in 1840. Perhaps generations of Heinrich’s ancestors are buried near him there as well.

Michael would have passed that location one last time, perhaps stopping to say one final goodbye to his father and wife, on his way down the valley, through the village of Erlenbach, perhaps gathering his cousin Jacob Ringeisen, on his way to Germany.

Heinrich was the last of his generation here, at least in my line, and Michael was the first generation in Germany.

We think of the Muller family as German, but in reality, Michael the first only lived in Germany as an adult, retraining his Swiss citizenship the entire time. His son, Michael the second lived in Germany until 1727 when he emigrated to the US. He only relinquished his Swiss citizenship in 1720. In total, the Muller family lived in Germany for between 43 and 46 years. They were only exclusively German, meaning no Swiss citizenship, for 7 years. Before that, they were Swiss, probably for generations. After that, American.

How long had the Muller family been settled in Schwarzenmatt? When did they arrive? And from where? Is the surname Muller the trade name for the local miller? Does it reflect the occupation of Heinrich or his ancestors? Were they millers on the creek that runs through the valley?

We don’t have answers to those questions, but we can look at what the Miller line Y DNA tells us.

Genetic History

Our cousin, the Reverend Richard Miller took the Big Y DNA test in order for Miller descendants to learn as much as possible about our heritage.

Our Miller terminal SNP, or haplogroup, is R-CTS7822.

SNP Estimated Age
CTS7822 5000-5300 (Bulgaria)
Z2109 5300 (Russia, India)
Z2106 5300-5500
M12149 5500-6100
Z2103 5500-6100

In the R1b Basal subclade project, our sample is the only one with a terminal SNP of CTS7822.

There are other people who have another SNP downstream that we don’t have, some in Germany and Switzerland, and many in Scandinavia. Those would be descendants of CTS7822. In other words, at some point in time, a branch of the family headed north, long before surnames were adopted. Another branch headed south, across the Alps to Italy. One branch is found in Bulgaria and another in England.

Z2109, the branch immediately above ours, also our ancestor, is found in India, the Russian Federation and Turkey. That’s a fascinating span and suggests that the person who carried the ancestral SNP, Z2109 might well have been in the Caucasus before his sons and their descendants fanned out in all directions.

Unnamed Variants

Perhaps even more exciting is that eventually our Miller line is likely to have a different terminal SNP. Cousin Richard has 36 total unnamed variants.

This means that mutations, SNPs, have been found in these locations on his Y chromosome that have never been found before. These SNPs aren’t yet named and placed on the haplotree. Our line will be responsible, when another male tests that has these same locations, for 36 new branches, or updated branches, on the Y tree.

I always knew our Miller line was quite unique, and Heinrich’s Y chromosome, passed to Miller men today proves it!

Heinrich Muller’s DNA will be providing new discoveries in a scientific field he had absolutely no clue existed. His final legacy wouldn’t be written into record until more than 337 years after his death in the tiny village of Schwarzenmatt in the Swiss Alps. Not chiseled into stone, but extracted from his descendants Y chromosome.

Reflecting

I know this is the last stop on the Miller/Muller road, in this picturesque tiny village in the Swiss alps. There are no more records. I am attempting to contact Peter Mosimann, and if I’m lucky, there may be more photos!

With the difficulties in colonial America determining who Michael Miller (the second) was, and where he came from, never in my wildest dreams did I think we’d find our original homeplace in Switzerland two generations earlier.

And not just Michael’s home location, but his actual swear-to-God home, as in house.

I’m still reeling from this stroke of amazing luck – but then luck favors the prepared. My amazing German genealogist and cousin, Tom and my German-speaking friend, Chris receive all the credit for their amazing sleuthing work. None of this would have happened without their diligence.

I am ever so grateful.

I have wanted to visit Germany for decades. With this latest discovery, I’m checking airfares. My husband is in the other room having a coronary at the potential cost of the trip, but I’m focused on the emotional toll of not going. I always regretted not taking my mother back to Mutterstadt before her death, and count on it, she’ll be accompanying me in spirit😊

Maybe she has been guiding the way all along.

It was a long journey, in terms of miles, ships and time, from Schwarzenmatt to where I sit today. Ten generations and almost 400 years of mule paths, rutted wagon roads and 3-masted ships. From a farmhouse of stone and wood on a mountainside sheltering people, goats and pigs, with water hauled from the community well to an electrified dashboard from which I can travel the world, even back to Schwarzenmatt, without leaving my driver’s seat.

Yet, I know that there’s nothing like visiting in person. Walking where Heinrich walked. Standing where he stood. Visiting his grave, or at least the graveyard where he, his wife and their ancestors are surely buried in unmarked graves.

I hope to be reporting back to you in a year or so from Schwarzenmatt as I trace my ancestors’ footsteps and generations back in time.