Acadian Maryland Historical Marker Unveiling

Posted on August 21, 2013 by Roberta Estes

Acadians, as we know, are a French-Canadian people who settled at Port Royal, Nova Scotia, in 1605 (replica above) and intermarried with the Native people, primarily Mi’kmaq. They were expelled from Canada by the British in 1755 and set adrift, winding up literally dispersed to the winds, landing in various places in the US, Europe and in the Caribbean, before they congregated in Louisiana and became known as Cajuns.

A group of about 900 of these displaced people, now refugees with nothing to their name, arrived in Maryland, a Catholic colony, and spent several years living there, many trying to make their way back to Canada. With the end of the war in 1763, these Acadians desperately wanted to settle among their own people. Some did return to Canada, but the rest found their way to Louisiana, the last group leaving in 1769.

Marie Rundquist, an Acadian descendant and founder of the Amerindian – Ancestry Out of Acadia DNA project, lobbied for 2 years for a sign commemorating this forgotten episode in Acadian and Maryland history.

Marie says, “One of my personal goals is to assign dignity to the heritage that I have learned is truly mine. To have a sign like this brings an Acadian history into the mainstream, and recognizes a people whose ancestry has not always been held in the highest esteem, and whose integral role in early American history has been largely dismissed by traditional scholars.

That the DNA of Native Americans of Canada rolled into Louisiana, and other parts of the United States, by way of this diaspora is at the heart of the Amerindian Ancestry out of Acadia project. The British didn’t pick and choose among whom they would toss into the Ocean…all went; it mattered not if your family had been in the area 150 years or 18,000!”

On July 28^th, 2013, on the day of the Acadian Memorial and Remembrance, when Acadians around the world recall the expulsion of 11,000+ Acadians from Nova Scotia in 1755, Marie celebrated by unveiling the sign in Princess Anne, Maryland. Way to go Marie!!!

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British Royal DNA

Posted on August 17, 2013 by Roberta Estes

In an article recently published, Bradley Larkin has done an excellent job of sorting through the various DNA results from different companies and locations and assembling them together for a paper on British Royal DNA titled Y-DNA of the British Monarchy, A Review on the occasion of the birth of the Prince of Cambridge.

Paper Abstract

A review was made of existing genetic genealogy findings that infer characteristics of the Y-DNA of members of the British Monarchy. Nine sustained Y-DNA lineages since the year 927 CE were noted as dynastic groups. Haplogroup and haplotype characteristics of three of the dynasties were presented with two more dynasties noted as testable but unpublished. Cultural and geographical origins of these dynasties were considered as context for their DNA haplogroups. Specimen candidates for further testing were identified noting that some will require Ancient DNA (aDNA) recovery and analysis.

Brad covers 8 major dynasties dating from 1603-2013, the Mountbatten, Hanover, Windsor and Stuart.

After discussing each dynasty, Brad ends his article with a summary table of the dynasties, monarchs from that dynasty, the Patriarch, origin and known DNA. It’s a great paper and an interesting read. Take a look. Who knows, this just might be relevant to you! Good job Brad!!!

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Black, White or Red – Changing Colors

Posted on August 11, 2013 by Roberta Estes

The Root recently published the article, “Did My White Ancestor Become Black?”, written by Henry Louis Gates Jr. and Eileen Pironti. We all know who Henry is from his PBS Series, Finding Your Roots.

America is the great mixing bowl of the world, with Native American, European and African people living in very close proximity for the past 400 years. Needless to say, on the subject of admixture and race, things are not always what they seem.

Henry Gates sums it up quite well in his article, regardless of what your ancestor looked like, or your family looks like today, “the only way to ascertain the ethnic mixture of your own ancestry is to take an admixture test from Family Tree DNA, 23andMe or Ancestry.com.”

Interestingly enough, in an earlier issue of The Root, Henry talks about how black are Black Americans.

In that article, Henry provides this information.

* According to Ancestry.com, the average African American is 65 percent sub-Saharan African, 29 percent European and 2 percent Native American.

* According to 23andme.com, the average African American is 75 percent sub-Saharan African, 22 percent European and only 0.6 percent Native American.

* According to Family Tree DNA.com, the average African American is 72.95 percent sub-Saharan African, 22.83 percent European and 1.7 percent Native American.

* According to National Geographic’s Genographic Project, the average African American is 80 percent sub-Saharan African, 19 percent European and 1 percent Native American.

The message is, of course, that you never know. Jack Goins, Hawkins County, Tennessee archivist, is the perfect example. Jack is the patriarch of Melungeon research. His Goins family was Melungeon, from Hawkins County, Tennessee. Jack founded the Melungeon DNA projects several years ago which resulted in a paper, co-authored by Jack (along with me, Janet Lewis Crain and Penny Ferguson), cited by Henry Louis Gates in his above article along with an associated NPR interview, titled “Melungeons, A Multiethnic Population.”

Jack, shown above with the photo of his Melungeon ancestors, looks white today. His family claimed both Portuguese and Indian heritage. His ancestors and family members in the 1840s were prosecuted for voting, given that they were “people of color.”

But Jack’s Y DNA, providing us with his paternal link to his Goins male lineage, is African. No one was more shocked at this information than Jack. Jack’s autosomal DNA testing confirms his African heritage, along with lots of European and a smidgen of Native in some tests.

When in doubt, test your DNA and that of selected relatives to document your various lines, creating your own DNA pedigree chart. For a broad spectrum picture of your DNA and ethnicity across of all of your heritage, autosomal DNA testing is the way to go. Without all of these tools, neither Jack nor Henry would ever have known their own personal truth.

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Gene By Gene Acquires Arpeggi

Posted on August 7, 2013 by Roberta Estes

Gene by Gene Acquires Arpeggi, a StartUp Health- and GE-Backed Company, to Build World’s Leading Genetic Testing and Genome Diagnostics Company

— Merger will make DNA testing more accessible and affordable for consumers, researchers and healthcare providers —

HOUSTON–Aug. 7, 2013 Gene by Gene, Ltd., the world’s first company to develop consumer DNA testing products for ancestry and genealogy applications, announced today the acquisition of Arpeggi, Inc., a StartUp Health- and GE-backed company that develops solutions for genome sequencing, data management and computational analysis.

The combined company will enable the acceleration of an innovative suite of more affordable genetics testing and diagnostics services available to consumers, researchers and healthcare providers.

“The acquisition of Arpeggi’s technology and world-class team of data and technology experts will enable us to accelerate Gene by Gene’s plan to make next-generation DNA sequencing and clinical genomics accessible and affordable to all,” said Max Blankfeld, Managing Partner of Gene by Gene. “We are on a mission to transform healthcare by dramatically speeding up the process, and reducing the costs, of genetic tests, which today are often far too expensive for the average consumer.”

Founded in 2012, Arpeggi develops solutions for genome sequencing, data management and computational analysis. In April, the company released GCAT Genome Comparison and Analytic Testing, a free community driven platform for evaluating the performance of next-generation sequencing (NGS) data analysis methods. The platform has gained tremendous traction and was recently showcased at BioIT World and the Clinical Genome Conference. Arpeggi has developed proprietary sequencing tools, designed for scale, that enable accurate, fast, and cost-effective analysis of genomes. This year, Arpeggi was selected as one of 14 startups, out of 400 applicants, to join the StartUp Health and GE Entrepreneurship Program to help grow, commercialize and scale new innovative healthcare technologies.

“We are thrilled by the acquisition of Arpeggi and excited to continue to help Gene by Gene on its mission to lead the rapidly advancing genetics testing and sequencing market,” said Unity Stoakes, cofounder and President of StartUp Health. “This acquisition represents a significant combination of technologies, expertise and infrastructure that we believe will make an important impact on the future of the genomics sector and how many people have access to these innovations.”

Rafael Torres, Senior Managing Director, GE Ventures- Healthcare said, “The deluge of data generated from genomic testing and the ability to store, analyze and interpret it efficiently has been a bottleneck for organizations focused on large scale sequencing. Arpeggi’s solution provides an infrastructure that helps human genomic and bioinformatics companies get the most out of their data. We’re proud to have Arpeggi involved with our Entrepreneurship Program with StartUp Health and cannot wait to see them further advance DNA testing through the marriage of science and technology.”

The entire Arpeggi team and technology platform will be incorporated into Gene by Gene. Additionally, Arpeggi’s founders will join Gene by Gene’s management team, effective immediately. Arpeggi’s Nir Leibovich was named Gene by Gene’s Chief Business Officer, Jason Wang was named Chief Technology Officer and David Mittelman, Ph.D was named Chief Scientific Officer.

Gene by Gene’s Doron Behar, M.D., Ph.D. was also named Chief Medical Officer. Gene by Gene’s Blankfeld and Bennett Greenspan continue to serve as the company’s Managing Partners.

Financial terms of the transaction were not disclosed.

About Gene by Gene Ltd.

Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

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Media Contacts:

For Gene By Gene, Ltd. and Arpeggi, Inc.:

Kate Croft

Casteel Schoenborn

croft@csirfirm.com

888-609-8351

For StartUp Health:

Unity Stoakes

President

StartUp Health

unity@startuphealth.com

646-416-4121

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Autosomal DNA, Ancient Ancestors, Ethnicity and the Dandelion

Posted on August 5, 2013 by Roberta Estes

Understanding our own ancient DNA is a little different than contemporary DNA that we use for genealogy, but it’s a continuum between the two with a very long umbilical cord between them, then, and now. And just when you think you’re about to understand autosomal DNA transmission and how it works, the subject of ancient DNA comes up. This is particularly perplexing when all you wanted in the first place was a simple answer to the question, “who am I and who were my ancestors?” Well, as you’re probably figured out by now, there is no simple answer.

Inheritance

In a nutshell – we know that every generation gets divided by 50% when we’re talking about autosomal DNA transmission.

So you inherit 50% of the DNA of each of your parents. They inherited 50% of the DNA of each of their parents, so you inherit ABOUT 25% of the DNA of each of your grandparents.

Did you see that word, about? It’s important, because while you do inherit exactly 50% of the DNA of each parent, you don’t inherit exactly 25% of the DNA of each grandparent. You can inherit a little less or a little more from either grandparent as your parents 50% that you’re going to receive is in the mixer.

This is also true for the 12.5% of each of your great-grandparents, and the 6.25% of each of your great-great-grandparents, and so forth, on up the line.

The chart below shows the percentages that you share from each generation.

Relationship to You	Approximate % Of Their DNA You Share
Parents	Exactly 50%
Grandparents	25
Great-grandparents	12.5
Great-great-grandparents	6.25
Great-great-great-grandparents	3.125
Great-great-great-great-grandparents	1.5625

Ethnicity

So, here’s the question posed by people trying to understand their ethnicity.

If I have 3% Melanesian (or Middle Eastern, Indo-Tibetan or fill-in-the-blank ethnicity), doesn’t that mean that one of my great-great-great-grandparents was Melanesian?

There are really two answers to this question. (I can hear you groaning!!!)

If the amount is 25% (for example) and not very small amounts, then the answer would be yes, that is very likely what this is telling you. Or maybe it’s telling you that you have two different great-grandparents who have 12.5 each – but those relatives are fairly close in time due to the amount of DNA that came from that region. See, that was easy.

However, the answer changes when we’re down in the very small percentages, below 5%, often in the 1 and 2% range. This answer isn’t nearly as straightforward.

The Dandelion – Your Ancestor

The answer is the dandelion.

The dandelion is one of your ancestors who lived in the Middle East, let’s say, 20,000 years ago, maybe 30,000 years ago. In case you’re counting generations, that is 800 to 1200 generations ago. The percentage of DNA you would carry from a single ancestor who lived 20,000 years ago, assuming you only descended from that ancestor 1 time, is infinitesimally small. There are more zeroes following that decimal point than I have patience to type. Let’s call that ancestor Xenia and let’s say she is a female.

However, you did inherit DNA from many of your ancestors who lived 20,000 years ago, thousands of them, because all of them, through their descendants, make up the DNA you carry today. So infinitesimally small or not, you do carry some of the DNA of some of those ancestors. It’s just broken into extremely small pieces today and their individual contributions to you may be extremely small. You don’t carry any DNA from some of them, actually, probably most of them, due to the recombination event, dividing their DNA in half, happening 800 times, give or take.

Now, given that your ancestors’ DNA is divided in every generation by approximately half, and we know there are about 3 billion base pairs on all of your chromosomes combined, this means that by generation 32 or 33, on average, you carry 1 segment from this ancestor. By generation 45, you carry, on average, .00017 segments of this ancestor’s DNA. And for those math aficionados among us, this is the mathematical notation for how much of our ancestor’s DNA we carry after 800 generations: 4.4991E-232.

But, we also know that this dividing in half, on the average, doesn’t always work exactly that way in reality, because some of those ancestors from 20,000 years ago did in fact pass their DNA to you, despite the infinitesimal odds against that happening. Some of their DNA was passed intact generation after generation, to you, and you carry it today. The DNA contributed by any one ancestor from 800 generations ago is probably limited to one or two locations, or bases, but still, it’s there, and it’s the combined DNA of those ancient ancestors that make us who we are today.

The autosomal DNA of any specific ancestor from long ago is probably too small and fragmented to recognize as “theirs” and attribute to them. Of course, the beauty of Y DNA and mitochondrial is that it is passed in tact for all of those generations. But for autosomal DNA and genealogy, we need hundreds of thousands of DNA pieces in a row from a particular ancestor to be recognizable as “theirs.” When we measure DNA for genealogy, what we are measuring is both centiMorgans, a measure of distance between chromosome positions (length) and the number of contiguous SNP (Single Nucleotide Polymorphism) base locations that match (quantity). The values from these calculations tells us how closely we are related to people, because remember, DNA is divided in each generation so there is a mathematically predictable amount we will share with specific relatives.

Here is an example from a Family Finder comparison table showing both centiMorgans and matching SNPs with a second cousin.

The matching threshold for genealogical significance is either 5 or 7 cM depending on which of the major companies you are using. At Family Tree DNA, if you match above the threshold, then you can view down to 1cM, which is the case above. Another match criteria is the number of SNPs, or locations, matching contiguously. Anything below about 500-800 is considered to be a population match, not a genealogical match, unless you also have a significant number of genealogical matches at higher cMs and segments with this person.

OK, where is all of this going?

Dispersion

Think of your ancestor 20,000 years ago as the dandelion. Now, blow.

Xenia lived in the Middle East. Where might her descendants land, over time, with every new generation? In Europe? In Asia? In India? In America via the Native Americans through Asia? In North Africa? Where?

So let’s say that groups of descendants settle across the globe. Let’s say that her mitochondrial haplogroup is X. Yes, haplogroup X is found both in Europe and in Asia and in the Native Americans, so this is actually a good example. So Xenia carried mitochondrial haplogroup X and we know for sure via mitochondrial DNA testing that indeed, Xenia’s seeds were scattered to all of the winds. The only place we haven’t found Xenia’s children is in Subsaharan Africa and the Australian archipelago, at least not yet.

Ok, so now that we know where her children and their children went, let’s go back to ancient DNA.

Predictive DNA

The way ethnicity is determined is by studying the frequency with which a specific allele or group of alleles is found in any particular population. Two “pure” examples come to mind.

The first example is the Duffy Null allele that is only found in the Subsaharan African populations. Currently this marker is found in about 68% of American blacks and in 88-100% of African blacks. If you have the Duffy Null allele, you have African heritage. Of course, you don’t know which line or which ancestor it came from, or how far back in time, but it assures you that you do in fact have African heritage. It could have been from an ancestor long ago. It could have been very recent. This is one of the factors considered when determining percentage of ethnicity.

A second example is the STR marker known as D9S919 which is present in about 30% of the Native American people. The value of 9 at this marker is not known to be present in any other ethnic group, so this mutation occurred after the Native people migrated across Beringia into the Americas, but long enough ago to be present in many descendants. There is also no other known marker that is only found only among Native Americans, although I expect as we move into full genome sequencing we will discover more. You can test this marker individually at Family Tree DNA, which is the only lab that offers this test. If you have the value of 9 at this marker, it confirms Native heritage, but if you don’t carry 9, it does NOT disprove Native heritage. After all, many Native people don’t carry it. Again, you don’t know how long ago this marker was introduced into your ancestry.

These two examples are very unique because the markers are found only in certain groups. Generally, with the rest of the DNA values, they are found in different amounts, or frequencies, in different parts of the world and ethnic groups.

So, if you’re trying to determine the ethnicity of an individual, you’re going to compile a huge data base of percentages of DNA values found of Ancestrally Informative Markers (AIMs) in different parts of the world.

So, you would compare the participant’s values against your data base and you will come up with those regions or ethnicities that are present most often in your comparison. This is exactly what the products and services that provide you with your ethnicity percentages do – and how accurate the results are depend highly on the data base itself, the amount of data, and the quality of data. Dare I mention Ancestry’s issue that they’ve had since they first began offering their autosomal product over a year ago where everyone seems to have Scandinavian ancestry? Ancestry doesn’t share with us their sources, so as a community we have no idea how they have come up with these numbers.

You can easily compare your autosomal results in nauseating detail at both 23andMe and Family Tree DNA by testing with both companies, or by testing with either 23andMe or Ancestry and transferring your autosomal results to Family Tree DNA. All 3 of these companies will give you a somewhat different result, but they should be in the same ballpark. You can also then download your raw data file from any of those vendors and upload it to www.gedmatch.com where you can then do ethnicity comparisons using a variety of tools. These tools, an example shown below, will have much more variance and detail than the vendor’s tools or results. And because of that, they tend to be more confusing as well.

Many people with small amounts of minority admixture are disappointed with the results through the vendors, especially if their Native American admixture doesn’t show. I wrote extensively about this in my series, The Autosomal Me, so I won’t rehash it here, but using the GedMatch tools is very enlightening, as you can see above with my results. And do I really have Indo-Tibetan and Indo-Iranian ancestors?

Where’s Xenia?

Back to Xenia and her descendants. Let’s say that Xenia’s descendants settled in four primary locations. One is in the Middle East – they never left home. One is in Asia and from there, to the Americans to become the Native Americans and lastly, to Europe. Now let’s say there is a pocket of them in the Altai region of Asia and a pocket in France. The Altai is the ancestral home of the Native Americans and could explain the Indo-Tibet result, above. We’ll call that Central Asia. And France is where my Acadian ancestors were from. Hmmm….this is getting confusing. To make matters even more confusing, I might well descend from both groups, who originally descended from Xenia.

Let’s say that I do in fact carry small segments of Xenia’s DNA. Now let’s say that this same DNA is found in a group of people in Central Asia, maybe in Tibet, it’s published in an obscure journal someplace, and it finds its way into a data base. Voila – there you go – I now have a match in Central Asia in a place called Indo-Tibet. But do I really?

Does this mean that my ancestor was from Central Asia? Not necessarily. And if so, maybe not recently, but the people from that location for some reason share some of the DNA that I carry. The question of course is why, how and when?

What this really means to you is a matter of degrees. If you have a few matches from obscure regions, along with very small percentages, it is likely a result of the dandelion’s dispersion. If you have a lot of matches, meaning a high percentage hit rate, from a particular region, pay attention, it probably has some genealogical significance.

It’s no wonder people are confused by this! Now, just think how many dandelions you have. In 15 generations, you have 32,768 ancestors. In fact, this is how we know for sure that we all descend from the same ancestor multiple times. Our number of ancestors quickly exceeds the world population. In 30 (25 years) generations, in about the year 1263, we reach about 1 billion ancestors. In 1750, there were 791 million people on Earth, in 1600, 580 million, in 1500, 458 million and in 1000, 310 million.

We know that we very likely descend several times from a much smaller group of ancestors from isolated local populations. However, just looking at the 32,000+ ancestors in 15 generations, it’s still an entire dandelion field!!!

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Kitty Cooper’s Chromsome Mapping Tool Released

Posted on August 3, 2013 by Roberta Estes

I haven’t had time to try this yet, but I can hardly wait. Kitty Cooper’s chromosome mapping tool enables those who have taken one of the autosomal tests from Family Tree DNA or 23andMe and downloaded matches to map the segments that you know are associated with certain ancestral lines on your chromosomes with a color key.

The genetic genealogy community has been anxiously waiting for this tool. You can find it here: http://kittymunson.com/dna/ChromosomeMapper.php

Until now, we were relegated to keeping this kind of information on a spreadsheet. I covered how to do this in my blog on Autosomal Triangulation and also in one of the Autosomal Me segments.

But thanks to Kitty, we can take the information above and make it look like the example below from Kitty’s blog.

We can’t think you enough Kitty!!! Way to go! Woohoo!

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Sunday Stories

Posted on July 31, 2013 by Roberta Estes

This topic isn’t exclusively about DNA – but then sometimes it’s all about DNA and the discoveries I’ve made in my family using genetic genealogy.

By the time genetic genealogy came along, I had spent 25 years, a quarter of a century, working on my genealogy. There was no low-hanging fruit left – just the tough stuff – those brick walls and dead ends. A few fell pretty quickly with DNA, but now, every new piece of genealogy information is like a gold nugget.

This brings me to the topic of Sunday stories.

Every Sunday I write something to my family. Let’s put this in perspective. What would you give to have a journal from your great-great-grandmother? A letter she wrote once a week?

My cousin gave me part of a letter (page 3 of 4 is missing) written by my great-grandmother, Eva Miller Ferverda, to someone about what was going on in her life at that moment. I cherish that letter and the oh-so-brief glimpse into her personality, writing style and what she thought – as told by her, in her own voice and handwriting that was silenced before I was born.

She lived from 1857 to 1939 – so if she had written Sunday stories, they would have covered what was going on that affected her life from about 1870 or 1880 through 1939 – a span of more than half a century. Think of all the things she could have discussed and how well we would still know her today.

She could have talked about the Spanish American War which took place in 1898 and in which her son fought, in spite of the fact that the family was of the Brethren faith. That must have caused her a great amount of consternation on several levels. It seems that topic would have been good for several Sunday stories, all by itself.

She could have talked about getting electricity in her home. She could have talked about the fact that her son’s house (my grandfather) had indoor plumbing, at least in the bathroom. In the kitchen, we still pumped water in the 1960s.

She could have talked about riding in a car for the first time, as an adult.

She could have talked about the 1933 Chicago World’s Fair.

She could have talked about moving to town from the farm.

She could have talked about WWI and the effect on both her family and the Brethren Church.

And she could have talked about what her family and church groups were doing.

But she didn’t. She wrote a letter than someone gave back to the family. We have pages 1, 2 and 4 from her – and other than a poem she wrote or more likely, copied, and gave to her husband for his 46th birthday, that’s it. That is all of her voice that is left, and we consider ourselves lucky to have that much. I know very little about her as a person, aside from those oh-so-dry birth, marriage and death dates.

Mickey

A few years ago, I attended the Caruso Leadership Institute. Joe Caruso hosted this seminar in Hawaii, at Kapalua Bay, an experience unlike any other, and Joe’s father, Mickey, came along. By the way, if you ever have the opportunity to hear Joe speak, by all means, do.

Mickey was a very nice older gentleman, and he was everyone’s father or grandfather. Born in Italy in a different time, he had all kinds of little anecdotes and tidbits of wisdom. He made us laugh and cry and we all loved him.

Somewhere in one of our conversations, Mickey told us about what he did every Sunday. He wrote a letter to his children. He wrote one original, and then on Monday, he went to the copy store and made enough copies to send to all of his children who were scattered to the winds, across the US. I asked him what was in the letters, and he said whatever he wanted to write about. I asked him what was in the last one he wrote, and he said he told his kids about the “old country,” which was Italy, and what life was like there. He said that he knew that if he didn’t tell them, whether they wanted to know or not at the time, that the knowledge would be lost. He said that sometimes he wrote about current events, sometimes about what was going on within the family, and sometimes, just shared his thoughts. At the time, I thought about how wonderful that was, but I thought about it as an adult child, not as the parent. I thought about how wonderful it would be to receive those letters, and as a grandchild someday, how I would love to receive that box of letters, and how much they would be cherished eventually by descendants a hundred or two hundred years hence.

Someone asked Mickey if he thought his kids actually read the letters. Mickey’s eyes lit up, and he got this mischievous twinkle in his eye, and he said, “I know they don’t, but someday they will.” He winked at us, and the topic was changed. We all knew what he meant.

That was in 1997 or 1998.

A couple of years later, I attended another Caruso event, this time in the midwest, and Joe told us that his father had passed away. That was a very sad say for us, as we all loved Mickey.

There were several of us at that event that has been to the Hawaii seminar. At one of the meals, we talked with Joe about Mickey, and someone mentioned the Sunday stories. I don’t remember if that was his name for them, or mine, truthfully. In any event, someone, maybe Joe’s brother, said “You wouldn’t believe what happened.”

It seems that after Mickey died, those letters somehow became valuable commodities to his children. Some of them had been unopened during Mickey’s lifetime. Can you imagine? But after Mickey’s death, his kids wanted Mickey to speak with them one more time, and what better way than the letters he wrote to them. But somehow, some of those letters shoved into drawers got lost. So the kids set up a “swap” – “I’ll trade you an August 7, 1993 for a September 3, 1996.”

Now, they wanted to read those letters, to cherish every single word. Now that Mickey couldn’t talk to them, they desperately sought his voice.

But there was a problem. There were a few letters that no one seemed to have a copy of. They were entirely lost to posterity. Do you think we should have told them that Mickey kept the original copy of all of the letters? The funny thing was that many of us knew that, and not a soul said a word. We figured that one day, they would stumble across the treasure chest that we knew awaited them someplace. Mickey’s ultimate poetic justice:)

It was a few years later, after my own grandchildren were born, and after my Mother’s passing, that I decided that yes, Sunday Stories were a wonderful opportunity. I began to view them from Mickey’s perspective, as the author, instead of being the recipient. I knew that the torch had somehow been passed to me even though I wasn’t ready for it and surely didn’t want it.

I also realized, from Mickey, that indeed, the stories wouldn’t be read consistently. I know that to be true, because the “prize” of $100 to the first person to come forth with one particular Sunday story has remained unclaimed. I intentionally don’t ask questions that would “reveal” whether or not my children have read them. My goal isn’t to embarrass the kids. I don’t want them to dread receiving them because they have to read them because they know a quiz is in the offing. I know that if they don’t read them today….eventually, they will. Sometimes when I write the stories, it is with “someday” in mind.

What I have to say really isn’t so important that it needs to be read immediately. These stories are probably more valuable to future generations. It’s important that the stories be passed on. And yes, there are many DNA stories – stories about family discoveries, stories about haplogroup discoveries that I’ve been involved with, stories about the National Geographic team, stories about the DNA conferences, and more. DNA discoveries, the leading edge of this wonderful new scientific field is a part of my life and because of that, it’s also part of the Sunday stories in various ways.

Cat Got Your Tongue???

How are you passing on your important stories to your as yet unborn descendants and relatives? How will they know you? What is your voice to the future? How will they know what important family information you’ve found? And yes, what about documenting your DNA journey? If you think finding out about your ancestor getting electricity or maybe their role in the Civil War is exciting, just think about the journey of DNA discovery. Don’t let your family miss it! You too are a pioneer.

Don’t know what to talk about? It doesn’t matter, just talk and be yourself.

Here’s a small example of my recent rants, err, I mean topics…

Spring Now and 20 Years Ago – The Blizzard of 1993 (I was trapped in Mt. Airy, NC)
Easter and USA Today (family member in the paper)
A Sea of Red For Equality (DOMA and Facebook)
The Bombing of the Boston Marathon and the Week of Terror
Mischief – Saying Goodbye (to the family cat)
Near Death Experiences
Mother’s Day 2013 (mostly pictures)
Dad, Beginning and End (my father’s delayed birth certificate and a photo of his tombstone)
John Y. Estes, Confederate Civil War Soldier (new genealogy discovery)
PreSchool Graduations and other Happenings
I Hope You Dance – June 2013 (dance recitals)
Still Missing Dads (Father’s Day memorial to my father and step-father)
Elizabeth and the Bowling Family of Charnock Richard, Lancashire

There are a few differences between what I’m doing and what Mickey did. I’m distributing all of my stories electronically as PDF files which is so much easier. Size then becomes entirely irrelevant and photos are easy to include. People like pictures and my stories are photo-rich.

And yes, of course, I keep an “original.” I print these once a year too and I keep a book of each year – 52 stories. So that is the functional equivalent of Mickey’s original. This is my 5^th year, so at the end of 2013 there will be approximately 260 stories. That number sounds overwhelming, but believe me, one at a time, it’s fun and rewarding and helps you organize your own records and thoughts.

Hey, this article, slightly adapted, could be my next week’s Sunday Story!!!

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Rosalind Franklin Gets a Google Doodle For Her 93rd Birthday

Posted on July 25, 2013 by Roberta Estes

Rosalind Franklin’s 93rd birthday is today. Don’t know who she is? Well, you’re not alone. She is the unsung hero of DNA discovery.

Franklin is best known for her work on the X-ray diffraction images of DNA which led to the discovery of the DNA double helix. Her data, according to Francis Crick, were “the data we actually used” to formulate Crick and Watson’s 1953 hypothesis regarding the structure of DNA. Franklin’s images of X-ray diffraction confirming the helical structure of DNA were shown to Watson without her approval or knowledge. This image and her accurate interpretation of the data provided valuable insight into the DNA structure, but Franklin’s scientific contributions to the discovery of the double helix are often overlooked.

She may have been overlooked elsewhere, and particularly in terms of the Nobel prize awarded to Crick and Watson, but she has not been forgotten and was honored today by Google in a doodle!

http://en.wikipedia.org/wiki/Rosalind_Franklin

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Jasmine’s Journey of Discovery

Posted on July 17, 2013 by Roberta Estes

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I am Jasmine’s daughter, well, I guess that would be granddaughter with many greats preceding – but she is my ancient clan mother, nonetheless.

Looking back now over the past 12 or 13 years since I had my mitochondrial DNA first tested and discovered I was a member of haplogroup J, I’ve realized what a journey of discovery I’ve been on. Literally. I was immediately interested in the ancestral journey of J, Jasmine, my ancestor, and as the tests became more refined, I learned more about Jasmine through her subgroups.

I’m now classified as J1c2f which is 4 subgroups downstream of haplogroup J, the original Jasmine, each one more refined and more geographically specific that the previous haplogroup. Looking at the maps for J, J1, J1c, J1c2 and J1c2f side by side shows the migration path of my ancestor rather clearly.

We know that haplogroup J was born in the Middle East some 30,000-50,000 years ago. Many subclades of J were also born there, but eventually, some began the slow migration to Europe. They probably had no destination in mind at that time, but were simply searching for something – fresh water, unsettled land, better hunting…something. My ancestor was among one of those groups, that long ago day. I can’t help but wonder what she saw, or thought, or if she even realized she was embarking on any kind of a journey. Did she have an inkling or was she simply moving next door?

Above, the haplogroup J map from the haplogroup J project at Family Tree DNA.

The subgroup J1c map is shown above. You can see it is somewhat smaller and the geography is not quite as widely dispersed.

The haplogroup J project doesn’t group in more refined haplogroup subgroups than J1c, but on the map above you can see the most distant ancestor locations of my full sequence matches, all haplogroup J1c2f. I’m surprised as how widely spread the ancestors of these participants are, given that by the time you’re 4 or 5 haplogroup generations downstream of a founding mother, J in this case, you’re often looking at distinctive regional clusters. I find the marker in the Caucasus, north of Turkey, quite interesting.

There are only a limited number of ways to get to Europe if you are coming from the Middle East: over the Caucasus through Russia, the sea route via the Mediterranean or the combined land and sea route, through Turkey, crossing between Europe and Asia at present day Istanbul, or old Constantinople, shown on the map below.

Learning about my haplogroup pushed the genealogical clock back further than I had ever imagined possible – from about 200 years to tens of thousands. That information fueled within me a vagabond I didn’t know existed, and at a depth I never imagined.

So, a few years later, I went on the “Journey of Jasmine,” at least part of it. I retraced some of her footsteps and cruised the Mediterranean coastline where many haplogroup J descendants are found today. I journaled about Jasmine daily and titled the trip, “The Journey of Jasmine.” I spent a day in Istanbul, Turkey and another day in the majestic ruins of Ephesus near the coast, shown below, and I knew that either my direct descendant or her relatives had stood where I stood, thousands of years ago.

When I crossed the Bosphorus River, or rather, sailed up and down the Bosphorus, which forms the border within the city of Istanbul between Europe and Asia, I knew that my ancestor, if she traveled from the Middle East to Europe using that route, had indeed crossed at or near that point. Constantinople is a very old trade route, established where it was because of its location. It moved me deeply to know I was likely standing in her footsteps, some thousands of years later.

Of course, it would have looked very different then. I imagined it without contemporary buildings.

Above, both the European and Asian sides of Istanbul, with Asia across the River. Below, the top photograph shows the European side of the bridge that connects the two halves of the city, and the lower photo shows the Asian side.

I have not been to Jasmine’s birthplace, the Middle East, but I’d surely love to visit, nor have I been to where my oldest ancestor whose name I know, Elizabetha Mehlheimer, was found in Goppmannsbuhl, Bayern, Germany around 1800, but I’m working on that too.

I have walked in the footsteps of other ancestors that I’ve found through DNA testing and I’m planning two trips within the next two years to do just that again.

This fall I will be visiting the location in Lancashire, England, discovered through a DNA match, where my Speake family originated, and as a bonus, down the road another 25 miles, where my Bowling line, who married into the Speak line, originated as well. I’ll be sharing that with you as I connect with the past.

I’m also visiting Kent where my Estes line originated, also proven through DNA testing, and then next year, visiting the Frisian roots of my Estes line that was only discovered through DNA testing.

Of course, if I’m visiting Frisian roots, I’ll also be visiting my Dutch roots as well, another powerful connection through DNA, assisted dramatically by a wonderful Dutch genealogist.

I’m Not the Only One

Recently, I saw a couple of other people comment about how their genetic discoveries have inspired them to connect with their distant, or maybe not so distant, past.

One person posted this video of the Tuvan throat singers who have genetic connections to Native American people.

http://www.youtube.com/watch?v=DY1pcEtHI_w

Someone else who tested Native and never knew about that history before is attending a Homecoming Powwow this weekend. Someone else attended an African Festival in Boston this week.

Another client who also tested Native visited Lake Baikal, the “home” of the Native people in Asia and sent me a photo of him standing on the shores of Lake Baikal to use in his DNA Report. Below, Shaman Rock in Lake Baikal.

Someone else mentioned that they are attending a Hungarian heritage festival near where they live after discovering their Hungarian heritage.

http://www.festival.si.edu/2013/Hungarian_Heritage/

Opportunities to connect with our ancestors and their culture, our heritage, are all around us.

What About You?

So, I’d like to know – how have your DNA results inspired you? Have they changed or influenced the journey of your life? What kind of experiences have you had that you would never have had without DNA testing? DNA has influenced my life dramatically and provided me with amazing opportunities and adventures – like the Lost Colony archaeology digs, for example.

As my good friend, Anne Poole, who I met through DNA testing, co-founder of the Lost Colony Research Group, pictured at left beside me below, reminds me every time we are on a hot, sweaty, poison ivy and tick-infested archaeology dig together, “it’s all about the journey.” Indeed it is. Tell me about yours.

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Combining Tools – Autosomal Plus Y-DNA, mtDNA and the X Chromosome

Posted on July 13, 2013 by Roberta Estes

Sometimes, there’s nothing worse than a little bit of knowledge to get us into trouble. If you need proof of that, I can show you a picture of one of my first quilts which has thankfully disappeared someplace and was known semi-affectionately as “The Ugly Quilt.” I even entered it in an “Ugly Quilt” contest and it wasn’t even good enough, or is that bad enough, to win that!! Fortunately, things have improved! I’ve learned a lot.

Combine a little knowledge with people who desperately want answers, and you have a situation ripe for mistakes, misinterpretation and misunderstanding.

That’s what sometimes happens when you combine the results of two different genetic genealogy tools and you don’t really understand their differences, their application to the specific problem at hand, or what the results are really telling you.

I’m talking about combining autosomal testing with haplogroup based testing, both Y DNA and mitochondrial DNA. This comes in two flavors; generic and specific.

Generic Matching – 23andMe

At 23andMe, your match results are displayed in a list along with information which may or may not be relevant to you and your match. Shown below are my 8 top matches at 23andMe. I know who these people are – they are my relatives, so there is no question of interpretation here. Let’s take a look at the information provided.

I have omitted the name column which is first. The second column is their relationship to me. The top row is me. Everyone has the option to enter geographic (blue tab) and surname information (green tabs,) which I have done. Not everyone does that as you can see by the information shown for the others.

Note the different haplogroups here. For mitochondrial (pink tab), you have 7 different haplogroups out of 8. That’s because these people, other than my son and I, don’t share a common maternal line. If they did share a haplogroup, it would be coincidence, or very far back in time, because we know the pedigree charts of all of these people and they do not share a known maternal ancestor.

Looking at the Y DNA haplogroups, you’ll notice that there are 4 men and of those 4, three share the same haplogroup. That is because, in this case, they are cousins who also share the same surname. If I was an adoptee and made this discovery, I’d be in 7^th Heaven, because this would be a very large hint. However, if these men shared a haplogroup but didn’t share a common surname, again, it could be coincidence or a common ancestor very far back in time.

I put those words in bold because recently I’ve seen the tendency to jump to conclusions about the relevance of common haplogroup information related to autosomal testing.

Let’s use an example. At 23andMe, you are provided with what is considered an extended haplogroup. Most of the time, these are correct except when the haplogroup designation involves insertions and deletions or reversions which can’t be detected reliably by this type of testing, only by full sequence or SNP testing. Let’s not go there and let’s presume these are absolutely accurate for purposes of this illustration. I happen to know my haplogroup listed at 23andMe is out of date. It is listed as J1c2 and it is actually J1c2f, but that actually enhances the point I’m about to make.

Using the Behar paper supplement to “A Copernican Reassessment of the Human Mitochondrial Tree From its Root,” the common ancestor for haplogroup J1c2 lived approximately 9700 years ago (plus or minus 2010 years standard deviation). Therefore, my common ancestor with anyone sharing this haplogroup is anyplace from the current generation (my children or parents) to nearly 10,000 years ago – clearly not relevant for genealogy. However, looking at my extended haplogroup, not determined by 23andMe, but found in my Family Tree DNA full sequence information, the common ancestor of J1c2f lived about 1900 years ago (plus or minus 3100 years standard deviation). Clearly that makes about an 8000 year difference, which narrows the window, but it still isn’t necessarily genealogically relevant.

Furthermore, at 23andMe, haplogroup information is provided, but personal mutations are not, for either Y DNA or mitochondrial. This is why I referred to this type of match at “generic.” For specific Y DNA or mitochondrial matching, you’ll need to go to Family Tree DNA.

Specific Matching – Family Tree DNA

At Family Tree DNA, Y DNA, mitochondrial DNA and autosomal results require different tests. The results are shown on different tabs on your personal page.

Each tab provides you with a significant number of pages of information about each test and displays your results in different ways.

For both Y DNA and mitochondrial (mtDNA), one of the options is “Matches” which shows you your personal matches at several levels. For mtDNA, the levels are HVR1, HVR1+HVR2 and Coding Region, which equate to the three levels of tests that you can take – basically introductory, intermediate and advanced. For Y DNA, the levels are 12, 25, 37, 67 and 111 markers.

My match results are shown below, again, with the first column, names, removed.

SmartMatching is important here, because Family Tree DNA has already done you the favor of removing anyone who is not a “true match.” Notice that the first column shown here includes the envelope icon, a notes icon, a pedigree chart icon, and following that, the level of testing taken by this person. I’m showing my full sequence matches here, so everyone has taken the FMS or full mitochondrial sequence test.

These are the people who also share the extended haplogroup of J1c2f. This means our common ancestor lived sometime between now and about 2000 years ago (plus or minus the standard deviation.) When you look at the oldest ancestors and the matches map that goes along with this test at Family Tree DNA, you can see how widely spread these “most distant” ancestors are. You can also see that one person has listed their grandfather, which means they were confused. A most distant mitochondrial, maternal, ancestor cannot be a grandfather – so this also calls into question the accuracy of their geographic information as well, shown in the Czech Republic, below.

Two thousand years ago (give or take) the common ancestor of all of these people was one person, and their direct descendants, their children, all lived in the same place initially. You can travel a long way in 2000 years. My oldest ancestor, the white balloon is found in German and my closest match is found in Norway.

To understand how to use combined tools, you have to understand each individual tool first.

Family Tree DNA does provide a combined matching tool called “Advanced Matching” for Y DNA, mtDNA and autosomal (Family Finder) tests.

Advanced Matching

Advanced matching allows you to combine test types and filter on specific fields.

The most common advanced matching for autosomal DNA is the combination of the Family Finder test plus either mtDNA or Y DNA results.

As they say, “your mileage may vary” and much of this variance will depend on two things. First, how many people tested at which testing level of the mtDNA and Y DNA tests and second, the relative rareness of your haplogroup. Said another way, if your mtDNA haplogroup is H and/or if your Y DNA haplogroup is R, you’re very likely to have a lot, many, low level matches because those haplogroups make up about half of the European population, respectively. However, if your haplogroup is J1c2f, meaning that your base haplogroup is much less common than H and that you’ve taken the full sequence test, you’re going to get a lot fewer and a lot more meaningful matches.

At the haplogroup H level, which is the most common HVR1 results, your common ancestor lived between 12,000 and 30,000 years ago, depending on whose estimates you use. Compare that to J1c2f’s 1900 years. Big difference. But is it big enough? It’s a clue, just like any other clue.

What Matches Don’t Mean

Let’s say that on the advanced menu you selected two tests, the Family Finder and the FMS (full mitochondrial sequence) test. The result is no matches. IF you had a match at this level, it does NOT mean that your common autosomal match is on the maternal, mitochondrial line. This is a very common mistake in logic. It means that you should continue to include this line in your search and maybe you want to focus there.

Let’s look at why. Autosomal testing reaches back in time to recent ancestors and measures how much of their DNA you share. In the past 5 or 6 generations, you likely share some DNA from all of your ancestors. After that, some of your ancestors DNA gets so diluted that it becomes in effect, washed out, or is present in such small quantities that we can’t effectively attribute it’s source. Mitochondrial DNA however, is never admixed or divided. Therefore time in terms of recent generations, unless we’re talking about when mutations occurred, like the mutation that set apart haplogroup J1c2f some 2000 years ago, is irrelevant. Mitochondrial and Y DNA both measure back in time to your earliest ancestor in that line.

The best use of both mtDNA and Y DNA with autosomal is to eliminate possible lines.

What Matches Do Mean

Let’s say I select Family Finder and the HVR1 level and show only people I match in both tests.

At this point, especially if you are haplogroup H, you’re going to get a long list of matches and people get very excited at this point. Don’t.

Above is an example list. Here’s also the problem.

Problem 1 – Most people only tested at the HVR1 level. For haplogroup J, this means the common ancestor lived about 35,000 years ago, plus or minus 5,000. What this really means is that if these people were to take the full sequence test, chances are they would no longer match you. There are more than 100 subgroups of haplogroup J and chances are very good that the tester would fall into one of them.

Problem 2 – Some people have tested at the HVR2 level or the FMS level and don’t match you at that level, even though they matched you at the HVR1 level. Look at the first result, the second column, the X. This means they did test and they don’t match you. This means that you’ve just eliminated this direct maternal line as a possible autosomal match, barring a mutation in the past few generations which is not impossible but extremely unlikely.

However, when people are desperate for any shred of evidence, they interpret this as “I match on the HVR1 level so this must be my common line with this person.” That is flawed logic and is outright wrong in the situation where the person has tested at a higher level and does NOT match. In fact, it’s just the opposite, you’ve just disproven this line. Now I think this is a good thing, because that means you can focus elsewhere.

This same logic holds for Y DNA matching as well. Finding someone you match with at the 12 marker level in haplogroup R, especially R1b1a2 (M269) is quite common. Finding someone you match at 67 or 111 markers and autosomally might be quite another matter.

A Third, Neglected Tool

There is a third tool that can be added to the mix here, but it’s not nearly as convenient as Advanced Matching.

Both 23andMe and Family Tree DNA test your X chromosome when they do their autosomal testing.

The X chromosome has a unique inheritance path which is different for men and women. If you recall, women inherit an X from both Mom and Dad, but males only inherit an X from Mom. They get the Y from Dad which makes them male. If you match someone on the X chromosome, or you don’t, that too is powerful information.

Blaine Bettinger originally published some wonderful X inheritance charts on his blog, The Genetic Genealogist, in December 2008 and January 2009 documenting how to use the X chromosome for genealogy.

The chart below shows the male inheritance path for the X chromosome via the colored locations. Because males and females both inherit the X from their mother, the maternal inheritance path of the X chromosome, the right half of this chart, is the same for men and women. In this case, we’re particularly interested in the mitochondrial DNA path as well, which is the furthest right pink line on the chart, shown with the arrows along the edge.

Including the X chromosome matching, here are your three possible outcomes.

If you match autosomally, you match at the deepest (full sequence) haplogroup level and you match on the X chromosome, you may indeed have a solid lead in the direct maternal line. It’s a lead, nothing more. It’s not confirmation of a common autosomal ancestor in that line.

If you match autosomally, you do not match at the haplogroup level, but you do match on the X chromosome, then you know it’s NOT the direct maternal line but it IS one of the other lines where you share an X chromosome.

If you match autosomally and you do not match at either the haplogroup level or on the X chromosome, you know that you can eliminate the direct maternal line and your match is probably on a line where you don’t share the X. I say probably because like any other DNA that is shared in an autosomal fashion, meaning divided by approximately 50% in every generation, it’s possible after several generations to not show as a match on the X but to still be descended from those lines.

Jim Turner created some nice X chromosome inheritance pedigree charts that are easily printable which you can find here.

Take Away

What’s the take-away in all of this? These are very powerful tools, but they only tools and they provide clues. Some clues eliminate possible connections, some clues suggest them. It’s only through multiple tools like triangulation and old-fashioned genealogy research that we confirm them.

We’ve gotten spoiled with the relatively easy Y DNA answers. A man tests and if he matches other men with the same surname with few mutations, we call it family and all is good. Women don’t have that luxury and neither do adoptees, although male adoptees clearly have the advantage of a potential solid Y match. Other types of DNA testing and analysis just aren’t as straightforward or easy, but that doesn’t mean the answer isn’t there. Perseverance is key. Common sense, understanding the tools and removing emotion, as much as possible, from the equation are critical. If you’re in doubt, get help. It’s a lot better to pay for an hour or two of consulting than to make a critical error in logic that can introduce errors into your family tree or cause you to waste time chasing the wrong lines.

Unraveling the secrets your DNA has to tell you is much like that game of Clue that we played as kids – accumulating pieces of information that, cumulatively, hopefully, lead to an answer. Miss Scarlet did it in the ballroom with Professor Plum. Or was it Colonel Mustard, or Reverend Green?