Haplogroup X2b4 is European, Not Native American

For many years, there has been a quandary in the genealogy community relative to the genesis of mitochondrial haplogroup X2b4.

The source of this question was the mitochondrial DNA test results of several of Radegonde Lambert’s descendants.

Radegonde Lambert, an Acadian woman, was born about 1621, possibly in Cap-de-Sable, Acadia according to the compiled research of professional genealogist Karen Theriot Reader.  She is thought by some to be the daughter of Jean Lambert, born in France but one of the original Acadian settlers, and a female reported to be a Mi’kmaq (Micmac) Indian, but with no confirmed documentation, despite years of looking.  An alternate origin for Radegonde is that she came to Acadia with her French husband, Jean Blanchard.

The DNA results of Radegonde’s direct matrilineal descendants proved to be haplogroup X2b4, but unfortunately, for a very long time, the ONLY people who took the full sequence mitochondrial DNA and had that haplogroup were descendants of Radegonde or people who did not know where their most distant matrilineal ancestor was originally from. So, the answer was to wait on additional test results – in other words, for more people to test.

Recently, I had reason to look at the results of one of Radegonde’s descendants again, and discovered that enough time has elapsed that new results are in, and based on full sequence matches and other evidence, it appears that X2b4 is indeed European and not Native.

X2b4 Mutations

Haplogroup X2b4 is characterized by several distinctive mutations, as follows.

Haplogroup or Subgroup Required Mutations
X T6221C, C6371T, A13966G, T14470C, T16189C!, C16278T!
X2 T195C!, G1719A
X2b C8393T, G15927A
X2b4 G3705A

Of the above mutations, only two, the mutations at 16189 and at 16278 are found in the HVR1 region, and only the mutation at 195 is found in the HVR2 region. The balance of these mutations are found in the coding region, so a haplogroup cannot be predicted at a higher level that X or perhaps X2 without the full sequence test.

Radegonde’s Mutations

Radegonde’s descendants carry all of these haplogroup defining mutations, and more. In fact, Radegonde’s descendants also have extra mutations at locations 16145 and 16301. We know this because at least a dozen of Radegonde’s descendants match exactly at the full sequence level, with no mutations. In other words, in those descendants, Radegonde’s mitochondrial DNA has remained unchanged for just shy of 400 years – and because they all match exactly, we know what Radegonde’s mitochondrial DNA looked like.

Turning now to other full sequence matches, we find that one of the individuals who matches Radegonde’s descendant with 3 mutations difference is from East Anglia in England, and his ancestors have never lived outside of England. In other words, this isn’t a case of someone whose ancestors immigrated and they may have incorrect genealogy.

Two more full sequence matches live in Norway and their ancestors have never lived elsewhere.

One match’s ancestor, Ally Lyon was born and married in Glenisa, Scotland in 1760.

Another match was born and lives in Germany and her ancestors were born there as well.

In summary, for matches, other than Radegonde and people who don’t know where their match was from, we have ancestors proven to be born in:

  • East Anglia
  • Norway
  • Norway
  • Glenisa, Scotland
  • Germany

Of Radegonde’s descendant’s matches, 5 individuals who tested still live in the country or location where their ancestor was born and their family/ancestors have never lived elsewhere.

Furthermore, there are no Native American mitochondrial DNA matches for haplogroup X2b or X2b4 in either contemporary testers or ancient burials

Base Haplogroups

It’s certainly possible and feasible for Native people to have base haplogroup matches from locations other than America, meaning haplogroup X in this case, but not for full sequence haplogroup matches, like X2b4, which suggest a common ancestor in a much closer timeframe.

Looking at the history of the migration of the Native people, if haplogroup X2b4 was indeed Native, and matched people in Europe, that would mean that haplogroup X2b4 would have been born more than 12,000 years ago when it’s believed that the Native people crossed the land bridge from Asia to the Americas. In order for migration to both the Americas and Europe from a common location to occur, probably in the Altai region of Asia, that date would probably have to be pushed back further, probably more in the range of 15,000 to 25,000 years ago to a common ancestor for descendants to be found in both the New World and Europe. It just isn’t feasible that haplogroup X2b4 was born that long ago.

When Was Haplogroup X Born?

Dr. Doron Behar in the supplement to his publication, “A Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root” provides the creation dates for haplogroup X through X2b4 as follows:

Haplogroup Created Years Ago Statistical Variance
X 31,718.5 11,709.2
X2 19,233.8 2640.9
X2b 9675.9 2466.0
X2b4 5589.2 2597.2

Statistical variance, in this instance means plus or minus, so this chart would read that haplogroup X was born 31,718 years ago plus or minus 11,709 years, so most likely 31,718 years ago, but sometime between 20,639 and 42,979 years ago. Think of a bell shaped curve with 31,718 in the center, or the highest part of the peak.

X2, on the other hand, was born roughly 19,000 years ago. We do know that haplogroup X2a is indeed Native, as is X2g and possibly X2e. So some of haplogroup X2 went east, incurring mutations that would become Native American haplogroup X2a, X2g and possibly X2e while others went west, winding up in Europe and incurring mutations that would become haplogroup X2b and subclades.

The X2b4 Project

Moving now to the X2b4 haplogroup project at Family Tree DNA, in addition to the X2b4 matches mentioned above for Radegonde’s descendants, we find other occurrences of X2b4 in:

  • The Czech Republic
  • Devon in the UK
  • Birmingham in the UK

The three locations in France, shown on the map below, are individuals who descend from Radegonde Lambert and believe her most distant ancestor to be French, so that is what they entered in their “most distant ancestor” location.

Other locations on the map (below) not noted as X2b4 (above) are X2b, the parent haplogroup of X2b4.

x2b4

Taking a look at the map, below, from the larger haplogroup X project that includes all of haplogroup X and all subclades, we see that haplogroup X is found widely in Europe, including X, X2 and X2b, among other subclades.

mtdna-x-project

National Geographic, Genographic Project

As a National Geographic affiliated researcher, I am privileged to have research access to the Genogaphic Project data base of just under 900,000 international participants.  While the identity of the participants is not held in the data base, their ancestor information, as they have provided, is included.  For haplogroup X2b4, there were 62 results, indicating just how rare this haplogroup is worldwide.  Unfortunately, not everyone provided the place of birth for their earliest known maternal ancestor.

Of the 37 individuals who did provide a birth location for their earliest maternal ancestor, none were Native American and the following locations for places of birth for their earliest maternal ancestor were listed, other than the United States and Canada.  Many of the participants and their grandparents are still living in the regions where their ancestors were born:

  • Ireland
  • Czech
  • Serbia
  • Germany (6)
  • France (2)
  • Denmark
  • Switzerland
  • Russia
  • Warsaw, Poland
  • Norway
  • Romania
  • England (2)
  • Slovakia
  • Scotland (2)

Conclusion

As you can see, based on Radegonde’s descendants full sequence matches in multiple European locations, Dr. Behar’s paper dating the birth of haplogroup X2b4 to approximately 5500 years ago, the Genographic Project X2b4 locations and other X2b and X2b4 haplogroup project members’ matches in Europe, it’s impossible for X2b4 to be Native American.

Therefore, Radegonde Lambert did not have a Native mother. Her mother was very probably French, like the rest of the Acadian immigrants.

Acknowledgements

I would like to thank:

  • nat-geo-logoNational Geographic Society Genographic Project and Dr. Miguel Vilar, Science Manager
  • My Haplogroup X2b4 project co-administrators, Marie Rundquist and Tom Glad
  • The haplogroup X project administrators, Carolyn Benson and Tom Glad
  • Radegonde Lambert’s descendants and others for testing, joining projects, and making their results public for all to share. Without public projects and results, discoveries like this would not be possible.
  • Family Tree DNA for providing the projects and support that enables us to further both scientific and genealogical research.

Further Analysis of Native American Haplogroup C-P39 Planned

Haplogroup C is one of two Native American male haplogroups. More specifically, one specific branch of the haplogroup C tree is Native American which is defined by mutation C-P39 (formerly known as C3b).  Ray Banks shows this branch (highlighted in yellow) along with sub-branches underneath on his tree:

C-P39 Ray Banks Tree

Please note that if you are designated at 23andMe as Y haplogroup C3e, you are probably C-P39. We encourage you to purchase the Y DNA 111 marker test at Family Tree DNA and join the haplogroup C and C-P39 projects.

It was only 11 years, ago in 2004 in the Zegura study, that C-P39 was reported among just a few Native American men in the Plains and Southwest.  Since that time The American Indian DNA project, surname projects and the AmerIndian Ancestry Out of Acadia DNA projects have accumulated samples that span the Canadian and American borders, reaching west to east, so haplogroup C-P39 is not relegated to the American Southwest.  It is, however, still exceedingly rare.

In August of 2012, Marie Rundquist, co-administrator of the haplogroup C-P39 DNA project performed an analysis and subsequent report of the relationships, both genealogical and genetic, of the C-P39 project members.  One of the burning questions is determining how far back in time the common ancestor of all of the C-P39 group members lived.

C-P39 MCRA

When Marie performed the first analysis, in 2012,, there were only 14 members in the project, representing 6 different families, and they had only tested to 67 markers. Most were from Canada.

C-P39 countries

My, how things have changed. We now have more participants, more markers to work with and additional tests to bring to bear on the questions of relatedness, timing and origins.

Today, there are a total of 43 people in the project and their locations include the Pacific Northwest, Appalachia, the Southwest and all across Canada, west to east.

If you are haplogroup C-P39 or C3e at 23andMe, please join the C-P39 project at Family Tree DNA today.  I wrote about how to join a project here, but if you need assistance, just let me know in a comment to the blog and Marie or I will contact you.  (Quick Instructions: sign on to your FTDNA account, click on projects tab on upper left toolbar, click on join, scroll down to Y haplogroup projects, click on C, select C-P39 project and click through to press orange join button.)

Marie is preparing to undertake a new analysis and provides the following announcement:

The C-P39 Y DNA project is pleased to announce a forthcoming updated and revised project report.  The C-P39 project has established a 111-marker baseline for our 2016 study and analysis will include:

  • 111 marker result comparisons
  • geo-locations
  • tribal / family relationships
  • C P39 SNP findings
  • new SNPs and Big Y results

The current C-P39 Y DNA study has a healthy diversity of surnames, geo-locations, and tribal / family lines represented.

The C-P39 Y DNA project will cover the costs of the necessary 111 marker upgrades by way of Family Tree DNA C-P39 Y DNA study project fund.

Thanks to all who have contributed to the project fund and to participants who have funded their own tests to 111 markers as part of our study.  To voluntarily contribute (anonymously if you like) to the C-P39 Y DNA project funds and help our project achieve this goal, please click on the link below and please do make certain that the “C-P39 Y-DNA” pre-selected project is highlighted when you do:

https://www.familytreedna.com/group-general-fund-contribution.aspx?g=Y-DNAC-P39

Thank you to project members contributing DNA test results to the C-P39 study and for encouraging friends and relatives to do the same!  Thank you also to Family Tree DNA management for their ongoing support.

The project needs to raise $3164 to upgrade all project members to 111 markers.  Many participants have already upgraded their own results, for which we are very grateful, but we need all project members at the 111 level if possible.

Please help fund this scientific project if you can.  Every little bit helps.  I’m going to start by making a donation right now!  You can make the donation in memory or in honor of someone or a particular ancestor – or you can be completely anonymous.  Please click on the link above to make your contribution!!!  We thank you and the scientific community thanks you.

The Best and Worst of 2015 – Genetic Genealogy Year in Review

2015 Best and Worst

For the past three years I’ve written a year-in-review article. You can see just how much the landscape has changed in the 2012, 2013 and 2014 versions.

This year, I’ve added a few specific “award” categories for people or firms that I feel need to be specially recognized as outstanding in one direction or the other.

In past years, some news items, announcements and innovations turned out to be very important like the Genographic Project and GedMatch, and others, well, not so much. Who among us has tested their full genome today, for example, or even their exome?  And would you do with that information if you did?

And then there are the deaths, like the Sorenson database and Ancestry’s own Y and mitochondrial data base. I still shudder to think how much we’ve lost at the corporate hands of Ancestry.

In past years, there have often been big new announcements facilitated by new technology. In many ways, the big fish have been caught in a technology sense.  Those big fish are autosomal DNA and the Big Y types of tests.  Both of these have created an avalanche of data and we, personally and as a community, are still trying to sort through what all of this means genealogically and how to best utilize the information.  Now we need tools.

This is probably illustrated most aptly by the expansion of the Y tree.

The SNP Tsunami Growing Pains Continue

2015 snp tsunami

Going from 800+ SNPs in 2012 to more than 35,000 SNPs today has introduced its own set of problems. First, there are multiple trees in existence, completely or partially maintained by different organizations for different purposes.  Needless to say, these trees are not in sync with each other.  The criteria for adding a SNP to the tree is decided by the owner or steward of that tree, and there is no agreement as to the definition of a valid SNP or how many instances of that SNP need to be in existence to be added to the tree.

This angst has been taking place for the most part outside of the public view, but it exists just the same.

For example, 23andMe still uses the old haplogroup names like R1b which have not been used in years elsewhere. Family Tree DNA is catching up with updating their tree, working with haplogroup administrators to be sure only high quality, proven SNPs are added to branches.  ISOGG maintains another tree (one branch shown above) that’s publicly available, utilizing volunteers per haplogroup and sometimes per subgroup.  Other individuals and organizations maintain other trees, or branches of trees, some very accurate and some adding a new “branch” with as little as one result.

The good news is that this will shake itself out. Personally, I’m voting for the more conservative approach for public reference trees to avoid “pollution” and a lot of shifting and changing downstream when it’s discovered that the single instance of a SNP is either invalid or in a different branch location.  However, you have to start with an experimental or speculative tree before you can prove that a SNP is where it belongs or needs to be moved, so each of the trees has its own purpose.

The full trees I utilize are the Family Tree DNA tree, available for customers, the ISOGG tree and Ray Banks’ tree which includes locations where the SNPs are found when the geographic location is localized. Within haplogroup projects, I tend to use a speculative tree assembled by the administrators, if one is available.  The haplogroup admins generally know more about their haplogroup or branch than anyone else.

The bad news is that this situation hasn’t shaken itself out yet, and due to the magnitude of the elephant at hand, I don’t think it will anytime soon. As this shuffling and shaking occurs, we learn more about where the SNPs are found today in the world, where they aren’t found, which SNPs are “family” or “clan” SNPs and the timeframes in which they were born.

In other words, this is a learning process for all involved – albeit a slow and frustrating one. However, we are making progress and the tree becomes more robust and accurate every year.

We may be having growing pains, but growing pains aren’t necessarily a bad thing and are necessary for growth.

Thank you to the hundreds of volunteers who work on these trees, and in particular, to Alice Fairhurst who has spearheaded the ISOGG tree for the past nine years. Alice retired from that volunteer position this year and is shown below after receiving two much-deserved awards for her service at the Family Tree DNA Conference in November.

2015 ftdna fairhurst 2

Best Innovative Use of Integrated Data

2015 smileDr. Maurice Gleeson receives an award this year for the best genealogical use of integrated types of data. He has utilized just about every tool he can find to wring as much information as possible out of Y DNA results.  Not only that, but he has taken great pains to share that information with us in presentations in the US and overseas, and by creating a video, noted in the article below.  Thanks so much Maurice.

Making Sense of Y Data

Estes pedigree

The advent of massive amounts of Y DNA data has been both wonderful and perplexing. We as genetic genealogists want to know as much about our family as possible, including what the combination of STR and SNP markers means to us.  In other words, we don’t want two separate “test results” but a genealogical marriage of the two.

I took a look at this from the perspective of the Estes DNA project. Of course, everyone else will view those results through the lens of their own surname or haplogroup project.

Estes Big Y DNA Results
https://dna-explained.com/2015/03/26/estes-big-y-dna-results/

At the Family Tree DNA Conference in November, James Irvine and Maurice Gleeson both presented sessions on utilizing a combination of STR and SNP data and various tools in analyzing their individual projects.

Maurice’s presentation was titled “Combining SNPs, STRs and Genealogy to build a Surname Origins Tree.”
http://www.slideshare.net/FamilyTreeDNA/building-a-mutation-history-tree

Maurice created a wonderful video that includes a lot of information about working with Y DNA results. I would consider this one of the very best Y DNA presentations I’ve ever seen, and thanks to Maurice, it’s available as a video here:
https://www.youtube.com/watch?v=rvyHY4R6DwE&feature=youtu.be

You can view more of Maurice’s work at:
http://gleesondna.blogspot.com/2015/08/genetic-distance-genetic-families.html

James Irvine’s presentation was titled “Surname Projects – Some Fresh Ideas.” http://www.slideshare.net/FamilyTreeDNA/y-dna-surname-projects-some-fresh-ideas

Another excellent presentation discussing Y DNA results was “YDNA maps Scandinavian Family Trees from Medieval Times and the Viking Age” by Peter Sjolund.
http://www.slideshare.net/FamilyTreeDNA/ydna-maps-scandinavian-family-trees-from-medieval-times-and-the-viking-age

Peter’s session at the genealogy conference in Sweden this year was packed. This photo, compliments of Katherine Borges, shows the room and the level of interest in Y-DNA and the messages it holds for genetic genealogists.

sweden 2015

This type of work is the wave of the future, although hopefully it won’t be so manually intensive. However, the process of discovery is by definition laborious.  From this early work will one day emerge reproducible methodologies, the fruits of which we will all enjoy.

Haplogroup Definitions and Discoveries Continue

A4 mutations

Often, haplogroup work flies under the radar today and gets dwarfed by some of the larger citizen science projects, but this work is fundamentally important. In 2015, we made discoveries about haplogroups A4 and C, for example.

Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
https://dna-explained.com/2015/03/05/haplogroup-a4-unpeeled-european-jewish-asian-and-native-american/

New Haplogroup C Native American Subgroups
https://dna-explained.com/2015/03/11/new-haplogroup-c-native-american-subgroups/

Native American Haplogroup C Update – Progress
https://dna-explained.com/2015/08/25/native-american-haplogroup-c-update-progress/

These aren’t the only discoveries, by any stretch of the imagination. For example, Mike Wadna, administrator for the Haplogroup R1b Project reports that there are now over 1500 SNPs on the R1b tree at Family Tree DNA – which is just about twice as many as were known in total for the entire Y tree in 2012 before the Genographic project was introduced.

The new Y DNA SNP Packs being introduced by Family Tree DNA which test more than 100 SNPs for about $100 will go a very long way in helping participants obtain haplogroup assignments further down the tree without doing the significantly more expensive Big Y test. For example, the R1b-DF49XM222 SNP Pack tests 157 SNPs for $109.  Of course, if you want to discover your own private line of SNPs, you’ll have to take the Big Y.  SNP Packs can only test what is already known and the Big Y is a test of discovery.

                       Best Blog2015 smile

Jim Bartlett, hands down, receives this award for his new and wonderful blog, Segmentology.

                             Making Sense of Autosomal DNA

segmentology

Our autosomal DNA results provide us with matches at each of the vendors and at GedMatch, but what do we DO with all those matches and how to we utilize the genetic match information? How to we translate those matches into ancestral information.  And once we’ve assigned a common ancestor to a match with an individual, how does that match affect other matches on that same segment?

2015 has been the year of sorting through the pieces and defining terms like IBS (identical by state, which covers both identical by population and identical by chance) and IBD (identical by descent). There has been a lot written this year.

Jim Bartlett, a long-time autosomal researcher has introduced his new blog, Segmentology, to discuss his journey through mapping ancestors to his DNA segments. To the best of my knowledge, Jim has mapped more of his chromosomes than any other researcher, more than 80% to specific ancestors – and all of us can leverage Jim’s lessons learned.

Segmentology.org by Jim Bartlett
https://dna-explained.com/2015/05/12/segmentology-org-by-jim-bartlett/

When you visit Jim’s site, please take a look at all of his articles. He and I and others may differ slightly in the details our approach, but the basics are the same and his examples are wonderful.

Autosomal DNA Testing – What Now?
https://dna-explained.com/2015/08/07/autosomal-dna-testing-101-what-now/

Autosomal DNA Testing 101 – Tips and Tricks for Contact Success
https://dna-explained.com/2015/08/11/autosomal-dna-testing-101-tips-and-tricks-for-contact-success/

How Phasing Works and Determining IBS vs IBD Matches
https://dna-explained.com/2015/01/02/how-phasing-works-and-determining-ibd-versus-ibs-matches/

Just One Cousin
https://dna-explained.com/2015/01/11/just-one-cousin/

Demystifying Autosomal DNA Matching
https://dna-explained.com/2015/01/17/demystifying-autosomal-dna-matching/

A Study Using Small Segment Matching
https://dna-explained.com/2015/01/21/a-study-utilizing-small-segment-matching/

Finally, A How-To Class for Working with Autosomal Results
https://dna-explained.com/2015/02/10/finally-a-how-to-class-for-working-with-autosomal-dna-results/

Parent-Child Non-Matching Autosomal DNA Segments
https://dna-explained.com/2015/05/14/parent-child-non-matching-autosomal-dna-segments/

A Match List Does Not an Ancestor Make
https://dna-explained.com/2015/05/19/a-match-list-does-not-an-ancestor-make/

4 Generation Inheritance Study
https://dna-explained.com/2015/08/23/4-generation-inheritance-study/

Phasing Yourself
https://dna-explained.com/2015/08/27/phasing-yourself/

Autosomal DNA Matching Confidence Spectrum
https://dna-explained.com/2015/09/25/autosomal-dna-matching-confidence-spectrum/

Earlier in the year, there was a lot of discussion and dissention about the definition of and use of small segments. I utilize them, carefully, generally in conjunction with larger segments.  Others don’t.  Here’s my advice.  Don’t get yourself hung up on this.  You probably won’t need or use small segments until you get done with the larger segments, meaning low-hanging fruit, or unless you are doing a very specific research project.  By the time you get to that point, you’ll understand this topic and you’ll realize that the various researchers agree about far more than they disagree, and you can make your own decision based on your individual circumstances. If you’re entirely endogamous, small segments may just make you crazy.  However, if you’re chasing a colonial American ancestor, then you may need those small segments to identify or confirm that ancestor.

It is unfortunate, however, that all of the relevant articles are not represented in the ISOGG wiki, allowing people to fully educate themselves. Hopefully this can be updated shortly with the additional articles, listed above and from Jim Bartlett’s blog, published during this past year.

Recreating the Dead

James Crumley overlapping segments

James and Catherne Crumley segments above, compliments of Kitty Cooper’s tools

As we learn more about how to use autosomal DNA, we have begun to reconstruct our ancestors from the DNA of their descendants. Not as in cloning, but as in attributing DNA found in multiple descendants that originate from a common ancestor, or ancestral couple.  The first foray into this arena was GedMatch with their Lazarus tool.

Lazarus – Putting Humpty Dumpty Back Together Again
https://dna-explained.com/2015/01/14/lazarus-putting-humpty-dumpty-back-together-again/

I have taken a bit of a different proof approach wherein I recreated an ancestor, James Crumley, born in 1712 from the matching DNA of roughly 30 of his descendants.
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I did the same thing, on an experimental smaller scale about a year ago with my ancestor, Henry Bolton.
https://dna-explained.com/2014/11/10/henry-bolton-c1759-1846-kidnapped-revolutionary-war-veteran-52-ancestors-45/

This is the way of the future in genetic genealogy, and I’ll be writing more about the Crumley project and the reconstruction of James Crumley in 2016.

                         Lump Of Coal Award(s)2015 frown

This category is a “special category” that is exactly what you think it is. Yep, this is the award no one wants.  We have a tie for the Lump of Coal Award this year between Ancestry and 23andMe.

               Ancestry Becomes the J.R. Ewing of the Genealogy World

2015 Larry Hagman

Attribution : © Glenn Francis, http://www.PacificProDigital.com

Some of you may remember J.R. Ewing on the television show called Dallas that ran from 1978 through 1991. J.R. Ewing, a greedy and unethical oil tycoon was one of the main characters.  The series was utterly mesmerizing, and literally everyone tuned in.  We all, and I mean universally, hated J.R. Ewing for what he unfeelingly and selfishly did to his family and others.  Finally, in a cliffhanger end of the season episode, someone shot J.R. Ewing.  OMG!!!  We didn’t know who.  We didn’t know if J.R. lived or died.  Speculation was rampant.  “Who shot JR?” was the theme on t-shirts everyplace that summer.  J.R. Ewing, over time, became the man all of America loved to hate.

Ancestry has become the J.R. Ewing of the genealogy world for the same reasons.

In essence, in the genetic genealogy world, Ancestry introduced a substandard DNA product, which remains substandard years later with no chromosome browser or comparison tools that we need….and they have the unmitigated audacity to try to convince us we really don’t need those tools anyway. Kind of like trying to convince someone with a car that they don’t need tires.

Worse, yet, they’ve introduced “better” tools (New Ancestor Discoveries), as in tools that were going to be better than a chromosome browser.  New Ancestor Discoveries “gives us” ancestors that aren’t ours. Sadly, there are many genealogists being led down the wrong path with no compass available.

Ancestry’s history of corporate stewardship is abysmal and continues with the obsolescence of various products and services including the Sorenson DNA database, their own Y and mtDNA database, MyFamily and most recently, Family Tree Maker. While the Family Tree Maker announcement has been met with great gnashing of teeth and angst among their customers, there are other software programs available.  Ancestry’s choices to obsolete the DNA data bases is irrecoverable and a huge loss to the genetic genealogy community.  That information is lost forever and not available elsewhere – a priceless, irreplaceable international treasure intentionally trashed.

If Ancestry had not bought up nearly all of the competing resources, people would be cancelling their subscriptions in droves to use another company – any other company. But there really is no one else anymore.  Ancestry knows this, so they have become the J.R. Ewing of the genealogy world – uncaring about the effects of their decisions on their customers or the community as a whole.  It’s hard for me to believe they have knowingly created such wholesale animosity within their own customer base.  I think having a job as a customer service rep at Ancestry would be an extremely undesirable job right now.  Many customers are furious and Ancestry has managed to upset pretty much everyone one way or another in 2015.

AncestryDNA Has Now Thoroughly Lost Its Mind
https://digginupgraves.wordpress.com/2015/04/02/ancestrydna-has-now-thoroughly-lost-its-mind/

Kenny, Kenny, Kenny
https://digginupgraves.wordpress.com/2015/04/10/kenny-kenny-kenny/

Dear Kenny – Any Suggestions for our New Ancestor Discoveries?
https://digginupgraves.wordpress.com/2015/04/13/dear-kenny-any-suggestions-for-our-new-ancestor-discoveries/

RIP Sorenson – A Crushing Loss
https://dna-explained.com/2015/05/15/rip-sorenson-a-crushing-loss/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Getting the Most Out of AncestryDNA
https://dna-explained.com/2015/02/02/getting-the-most-out-of-ancestrydna/

Ancestry Gave Me a New DNA Ancestor and It’s Wrong
https://dna-explained.com/2015/04/03/ancestry-gave-me-a-new-dna-ancestor-and-its-wrong/

Testing Ancestry’s Amazing New Ancestor DNA Claim
https://dna-explained.com/2015/04/07/testing-ancestrys-amazing-new-ancestor-dna-claim/

Dissecting AncestryDNA Circles and New Ancestors
https://dna-explained.com/2015/04/09/dissecting-ancestrydna-circles-and-new-ancestors/

Squaring the Circle
http://legalgenealogist.com/blog/2015/03/29/squaring-the-circle/

Still Waiting for the Holy Grail
http://legalgenealogist.com/blog/2015/04/05/still-waiting-for-the-holy-grail/

A Dozen Ancestors That Aren’t aka Bad NADs
https://dna-explained.com/2015/04/14/a-dozen-ancestors-that-arent-aka-bad-nads/

The Logic and Birth of a Bad NAD (New Ancestor Discovery)
https://dna-explained.com/2015/08/12/the-logic-and-birth-of-a-bad-nad-new-ancestor-discovery/

Circling the Shews
http://legalgenealogist.com/blog/2015/05/24/circling-the-shews/

Naughty Bad NADs Sneak Home Under Cover of Darkness
https://dna-explained.com/2015/08/24/naughty-bad-nads-sneak-home-under-cover-of-darkness/

Ancestry Shared Matches Combined with New Ancestor Discoveries
https://dna-explained.com/2015/08/28/ancestry-shared-matches-combined-with-new-ancestor-discoveries/

Ancestry Shakey Leaf Disappearing Matches: Now You See Them – Now You Don’t
https://dna-explained.com/2015/09/24/ancestry-shakey-leaf-disappearing-matches-now-you-see-them-now-you-dont/

Ancestry’s New Amount of Shared DNA – What Does It Really Mean?
https://dna-explained.com/2015/11/06/ancestrys-new-amount-of-shared-dna-what-does-it-really-mean/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Confusion – Family Tree Maker, Family Tree DNA and Ancestry.com
https://dna-explained.com/2015/12/13/confusion-family-tree-maker-family-tree-dna-and-ancestry-com/

DNA: good news, bad news
http://legalgenealogist.com/blog/2015/01/11/dna-good-news-bad-news/

Check out the Alternatives
http://legalgenealogist.com/blog/2015/12/09/check-out-the-alternatives/

GeneAwards 2015
http://www.tamurajones.net/GeneAwards2015.xhtml

23andMe Betrays Genealogists

2015 broken heart

In October, 23andMe announced that it has reached an agreement with the FDA about reporting some health information such as carrier status and traits to their clients. As a part of or perhaps as a result of that agreement, 23andMe is dramatically changing the user experience.

In some aspects, the process will be simplified for genealogists with a universal opt-in. However, other functions are being removed and the price has doubled.  New advertising says little or nothing about genealogy and is entirely medically focused.  That combined with the move of the trees offsite to MyHeritage seems to signal that 23andMe has lost any commitment they had to the genetic genealogy community, effectively abandoning the group entirely that pulled their collective bacon out of the fire. This is somehow greatly ironic in light of the fact that it was the genetic genealogy community through their testing recommendations that kept 23andMe in business for the two years, from November of 2013 through October of 2015 when the FDA had the health portion of their testing shut down.  This is a mighty fine thank you.

As a result of the changes at 23andMe relative to genealogy, the genetic genealogy community has largely withdrawn their support and recommendations to test at 23andMe in favor of Ancestry and Family Tree DNA.

Kelly Wheaton, writing on the Facebook ISOGG group along with other places has very succinctly summed up the situation:
https://www.facebook.com/groups/isogg/permalink/10153873250057922/

You can also view Kelly’s related posts from earlier in December and their comments at:
https://www.facebook.com/groups/isogg/permalink/10153830929022922/
and…
https://www.facebook.com/groups/isogg/permalink/10153828722587922/

My account at 23andMe has not yet been converted to the new format, so I cannot personally comment on the format changes yet, but I will write about the experience in 2016 after my account is converted.

Furthermore, I will also be writing a new autosomal vendor testing comparison article after their new platform is released.

I Hate 23andMe
https://digginupgraves.wordpress.com/2015/06/14/i-hate-23andme/

23andMe to Get Makeover After Agreement With FDA
https://dna-explained.com/2015/10/21/23andme-to-get-a-makeover-after-agreement-with-fda/

23andMe Metamorphosis
http://throughthetreesblog.tumblr.com/post/131724191762/the-23andme-metamorphosis

The Changes at 23andMe
http://legalgenealogist.com/blog/2015/10/25/the-changes-at-23andme/

The 23and Me Transition – The First Step
https://dna-explained.com/2015/11/05/the-23andme-transition-first-step-november-11th/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Why Autosomal Response Rate Really Does Matter
https://dna-explained.com/2015/02/24/why-autosomal-response-rate-really-does-matter/

Heads Up About the 23andMe Meltdown
https://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

Now…and not now
http://legalgenealogist.com/blog/2015/12/06/now-and-not-now/

                             Cone of Shame Award 2015 frown

Another award this year is the Cone of Shame award which is also awarded to both Ancestry and 23andMe for their methodology of obtaining “consent” to sell their customers’, meaning our, DNA and associated information.

Genetic Genealogy Data Gets Sold

2015 shame

Unfortunately, 2015 has been the year that the goals of both 23andMe and Ancestry have become clear in terms of our DNA data. While 23andMe has always been at least somewhat focused on health, Ancestry never was previously, but has now hired a health officer and teamed with Calico for medical genetics research.

Now, both Ancestry and 23andMe have made research arrangements and state in their release and privacy verbiage that all customers must electronically sign (or click through) when purchasing their DNA tests that they can sell, at minimum, your anonymized DNA data, without any further consent.  And there is no opt-out at that level.

They can also use our DNA and data internally, meaning that 23andMe’s dream of creating and patenting new drugs can come true based on your DNA that you submitted for genealogical purposes, even if they never sell it to anyone else.

In an interview in November, 23andMe CEO Anne Wojcicki said the following:

23andMe is now looking at expanding beyond the development of DNA testing and exploring the possibility of developing its own medications. In July, the company raised $79 million to partly fund that effort. Additionally, the funding will likely help the company continue with the development of its new therapeutics division. In March, 23andMe began to delve into the therapeutics market, to create a third pillar behind the company’s personal genetics tests and sales of genetic data to pharmaceutical companies.

Given that the future of genetic genealogy at these two companies seems to be tied to the sale of their customer’s genetic and other information, which, based on the above, is very clearly worth big bucks, I feel that the fact that these companies are selling and utilizing their customer’s information in this manner should be fully disclosed. Even more appropriate, the DNA information should not be sold or utilized for research without an informed consent that would traditionally be used for research subjects.

Within the past few days, I wrote an article, providing specifics and calling on both companies to do the following.

  1. To minimally create transparent, understandable verbiage that informs their customers before the end of the purchase process that their DNA will be sold or utilized for unspecified research with the intention of financial gain and that there is no opt-out. However, a preferred plan of action would be a combination of 2 and 3, below.
  2. Implement a plan where customer DNA can never be utilized for anything other than to deliver the services to the consumers that they purchased unless a separate, fully informed consent authorization is signed for each research project, without coercion, meaning that the client does not have to sign the consent to obtain any of the DNA testing or services.
  3. To immediately stop utilizing the DNA information and results from customers who have already tested until they have signed an appropriate informed consent form for each research project in which their DNA or other information will be utilized.

And Now Ancestry Health
https://dna-explained.com/2015/06/06/and-now-ancestry-health/

Opting Out
http://legalgenealogist.com/blog/2015/07/26/opting-out/

Ancestry Terms of Use Updated
http://legalgenealogist.com/blog/2015/07/07/ancestry-terms-of-use-updated/

AncestryDNA Doings
http://legalgenealogist.com/blog/2015/07/05/ancestrydna-doings/

Heads Up About the 23andMe Meltdown
https://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

23andMe and Ancestry and Selling Your DNA Information
https://dna-explained.com/2015/12/30/23andme-ancestry-and-selling-your-dna-information/

                      Citizen Science Leadership Award   2015 smile

The Citizen Science Leadership Award this year goes to Blaine Bettinger for initiating the Shared cM Project, a crowdsourced project which benefits everyone.

Citizen Scientists Continue to Push the Edges of the Envelope with the Shared cM Project

Citizen scientists, in the words of Dr. Doron Behar, “are not amateurs.” In fact, citizen scientists have been contributing mightily and pushing the edge of the genetic genealogy frontier consistently now for 15 years.  This trend continues, with new discoveries and new ways of viewing and utilizing information we already have.

For example, Blaine Bettinger’s Shared cM Project was begun in March and continues today. This important project has provided real life information as to the real matching amounts and ranges between people of different relationships, such as first cousins, for example, as compared to theoretical match amounts.  This wonderful project produced results such as this:

2015 shared cM

I don’t think Blaine initially expected this project to continue, but it has and you can read about it, see the rest of the results, and contribute your own data here. Blaine has written several other articles on this topic as well, available at the same link.

Am I Weird or What?
https://dna-explained.com/2015/03/07/am-i-weird-or-what/

Jim Owston analyzed fourth cousins and other near distant relationships in his Owston one-name study:
https://owston.wordpress.com/2015/08/10/an-analysis-of-fourth-cousins-and-other-near-distant-relatives/

I provided distant cousin information in the Crumley surname study:
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I hope more genetic genealogists will compile and contribute this type of real world data as we move forward. If you have compiled something like this, the Surname DNA Journal is peer reviewed and always looking for quality articles for publication.

Privacy, Law Enforcement and DNA

2015 privacy

Unfortunately, in May, a situation by which Y DNA was utilized in a murder investigation was reported in a sensationalist “scare” type fashion.  This action provided cause, ammunition or an excuse for Ancestry to remove the Sorenson data base from public view.

I find this exceedingly, exceedingly unfortunate. Given Ancestry’s history with obsoleting older data bases instead of updating them, I’m suspecting this was an opportune moment for Ancestry to be able to withdraw this database, removing a support or upgrade problem from their plate and blame the problem on either law enforcement or the associated reporting.

I haven’t said much about this situation, in part because I’m not a lawyer and in part because the topic is so controversial and there is no possible benefit since the damage has already been done. Unfortunately, nothing anyone can say or has said will bring back the Sorenson (or Ancestry) data bases and arguments would be for naught.  We already beat this dead horse a year ago when Ancestry obsoleted their own data base.  On this topic, be sure to read Judy Russell’s articles and her sources as well for the “rest of the story.”

Privacy, the Police and DNA
http://legalgenealogist.com/blog/2015/02/08/privacy-the-police-and-dna/

Big Easy DNA Not So Easy
http://legalgenealogist.com/blog/2015/03/15/big-easy-dna-not-so-easy/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Genetic genealogy standards from within the community were already in the works prior to the Idaho case, referenced above, and were subsequently published as guidelines.

Announcing Genetic Genealogy Standards
http://thegeneticgenealogist.com/2015/01/10/announcing-genetic-genealogy-standards/

The standards themselves:
http://www.thegeneticgenealogist.com/wp-content/uploads/2015/01/Genetic-Genealogy-Standards.pdf

Ancient DNA Results Continue to Amass

“Moorleiche3-Schloss-Gottorf” by Commander-pirx at de.wikipedia – Own work. Licensed under CC BY-SA 3.0 via Commons

Ancient DNA is difficult to recover and even more difficult to sequence, reassembling tiny little blocks of broken apart DNA into an ancient human genome.

However, each year we see a few more samples and we are beginning to repaint the picture of human population movement, which is different than we thought it would be.

One of the best summaries of the ancient ancestry field was Michael Hammer’s presentation at the Family Tree DNA Conference in November titled “R1B and the Peopling of Europe: an Ancient DNA Update.” His slides are available here:
http://www.slideshare.net/FamilyTreeDNA/r1b-and-the-people-of-europe-an-ancient-dna-update

One of the best ongoing sources for this information is Dienekes’ Anthropology Blog. He covered most of the new articles and there have been several.  That’s the good news and the bad news, all rolled into one. http://dienekes.blogspot.com/

I have covered several that were of particular interest to the evolution of Europeans and Native Americans.

Yamnaya, Light Skinned Brown Eyed….Ancestors?
https://dna-explained.com/2015/06/15/yamnaya-light-skinned-brown-eyed-ancestors/

Kennewick Man is Native American
https://dna-explained.com/2015/06/18/kennewick-man-is-native-american/

Botocudo – Ancient Remains from Brazil
https://dna-explained.com/2015/07/02/botocudo-ancient-remains-from-brazil/

Some Native had Oceanic Ancestors
https://dna-explained.com/2015/07/22/some-native-americans-had-oceanic-ancestors/

Homo Naledi – A New Species Discovered
https://dna-explained.com/2015/09/11/homo-naledi-a-new-species-discovered/

Massive Pre-Contact Grave in California Yields Disappointing Results
https://dna-explained.com/2015/10/20/mass-pre-contact-native-grave-in-california-yields-disappointing-results/

I know of several projects involving ancient DNA that are in process now, so 2016 promises to be a wonderful ancient DNA year!

Education

2015 education

Many, many new people discover genetic genealogy every day and education continues to be an ongoing and increasing need. It’s a wonderful sign that all major conferences now include genetic genealogy, many with a specific track.

The European conferences have done a great deal to bring genetic genealogy testing to Europeans. European testing benefits those of us whose ancestors were European before immigrating to North America.  This year, ISOGG volunteers staffed booths and gave presentations at genealogy conferences in Birmingham, England, Dublin, Ireland and in Nyköping, Sweden, shown below, photo compliments of Catherine Borges.

ISOGG volunteers

Several great new online educational opportunities arose this year, outside of conferences, for which I’m very grateful.

DNA Lectures YouTube Channel
https://dna-explained.com/2015/04/26/dna-lectures-youtube-channel/

Allen County Public Library Online Resources
https://dna-explained.com/2015/06/03/allen-county-public-library-online-resources/

DNA Data Organization Tools and Who’s on First
https://dna-explained.com/2015/09/08/dna-data-organization-tools-and-whos-on-first/

Genetic Genealogy Educational Resource List
https://dna-explained.com/2015/12/03/genetic-genealogy-educational-resource-list/

Genetic Genealogy Ireland Videos
https://www.youtube.com/channel/UCHnW2NAfPIA2KUipZ_PlUlw

DNA Lectures – Who Do You Think You Are
https://www.youtube.com/channel/UC7HQSiSkiy7ujlkgQER1FYw

Ongoing and Online Classes in how to utilize both Y and autosomal DNA
http://www.dnaadoption.com/index.php?page=online-classes

Education Award

2015 smile Family Tree DNA receives the Education Award this year along with a huge vote of gratitude for their 11 years of genetic genealogy conferences. They are the only testing or genealogy company to hold a conference of this type and they do a fantastic job.  Furthermore, they sponsor additional educational events by providing the “theater” for DNA presentations at international events such as the Who Do You Think You Are conference in England.  Thank you Family Tree DNA.

Family Tree DNA Conference

ftdna 2015

The Family Tree DNA Conference, held in November, was a hit once again. I’m not a typical genealogy conference person.  My focus is on genetic genealogy, so I want to attend a conference where I can learn something new, something leading edge about the science of genetic genealogy – and that conference is definitely the Family Tree DNA conference.

Furthermore, Family Tree DNA offers tours of their lab on the Monday following the conference for attendees, and actively solicits input on their products and features from conference attendees and project administrators.

2015 FTDNA lab

Family Tree DNA 11th International Conference – The Best Yet
https://dna-explained.com/2015/11/18/2015-family-tree-dna-11th-international-conference-the-best-yet/

All of the conference presentations that were provided by the presenters have been made available by Family Tree DNA at:
http://www.slideshare.net/FamilyTreeDNA?utm_campaign=website&utm_source=sendgrid.com&utm_medium=email

2016 Genetic Genealogy Wish List

2015 wish list

In 2014, I presented a wish list for 2015 and it didn’t do very well.  Will my 2015 list for 2016 fare any better?

  • Ancestry restores Sorenson and their own Y and mtDNA data bases in some format or contributes to an independent organization like ISOGG.
  • Ancestry provides chromosome browser.
  • Ancestry removes or revamps Timber in order to restore legitimate matches removed by Timber algorithm.
  • Fully informed consent (per research project) implemented by 23andMe and Ancestry, and any other vendor who might aspire to sell consumer DNA or related information, without coercion, and not as a prerequisite for purchasing a DNA testing product. DNA and information will not be shared or utilized internally or externally without informed consent and current DNA information will cease being used in this fashion until informed consent is granted by customers who have already tested.
  • Improved ethnicity reporting at all vendors including ancient samples and additional reference samples for Native Americans.
  • Autosomal Triangulation tools at all vendors.
  • Big Y and STR integration and analysis enhancement at Family Tree DNA.
  • Ancestor Reconstruction
  • Mitochondrial and Y DNA search tools by ancestor and ancestral line at Family Tree DNA.
  • Improved tree at Family Tree DNA – along with new search capabilities.
  • 23andMe restores lost capabilities, drops price, makes changes and adds features previously submitted as suggestions by community ambassadors.
  • More tools (This is equivalent to “bring me some surprises” on my Santa list as a kid.)

My own goals haven’t changed much over the years. I still just want to be able to confirm my genealogy, to learn as much as I can about each ancestor, and to break down brick walls and fill in gaps.

I’m very hopeful each year as more tools and methodologies emerge.  More people test, each one providing a unique opportunity to match and to understand our past, individually and collectively.  Every year genetic genealogy gets better!  I can’t wait to see what 2016 has in store.

Here’s wishing you a very Happy and Ancestrally Prosperous New Year!

2015 happy new year

Top 10 Most Popular Articles of 2015

Wordpress 2015

WordPress, the blogging software I use, provides a year-end summary that is quite interesting.

I really like this report, as I tend to be very focused on what I’m researching and writing, not on stats – so this is a refreshing break and summary. I thought you might be interested too.

The top 10 most viewed posts in 2015 were, in order from least to most:

10thPromethease – Genetic Health Information Alternative – From December 2013

People are beginning to ask about how they can obtain some of the health information that they were previously receiving from 23andMe.  For $5, at Promethease,  you can upload any of the autosomal files from either Family Tree DNA, 23andMe or Ancestry.com.  They will process your raw data and provide you with a report that is available to download from their server for 45 days.  They also e-mail you a copy.

9thX Marks the Spot – From September 2012

When using autosomal DNA, the X chromosome is a powerful tool with special inheritance properties.  Many people think that mitochondrial DNA is the same as the X chromosome.  It’s not.

8thThick Hair, Small Boobs, Shovel Shaped Teeth and More – From February 2013

Yep, there’s a gene for these traits, and more.  The same gene, named EDAR (short for Ectodysplasin receptor EDARV370A), it turns out, also confers more sweat glands and distinctive teeth and is found in the majority of East Asian people.

7thMythbusting – Women, Fathers and DNA – From June 2013

I’m sometimes amazed at what people believe – and not just a few people – but a lot of people.

Recently, I ran across a situation where someone was just adamant that autosomal DNA could not help a female find or identify her father.  That’s simply wrong. Incorrect.  Nada!  This isn’t, I repeat, IS NOT, true of autosomal testing.

6th4 Kinds of DNA for Genetic Genealogy – from October 2012 – This is probably the article I refer people to most often.  It’s the basics, just the basics.

There seems to be a lot of confusion about the different “kinds” of DNA and how they can be used for genetic genealogy.

It used to be simple.  When this “industry” first started, in the year 2000, you could test two kinds of DNA and it was straightforward.  Now we’ve added more DNA, more tools and more testing companies and it’s not quite so straightforward anymore.

5thIs History Repeating Itself at Ancestry? – from August 2012

Is history repeating itself at Ancestry?

I’ve been thinking about whether or not I should publish this posting.  As I write and rewrite it, I still haven’t made up my mind.  It’s one of those sticky wickets, as they are called.  One of the reasons I hesitate is that I have far more questions than answers.

4thWhat is a Haplogroup? – From January 2013

Sometimes we’ve been doing genetic genealogy for so long we forget what it’s like to be new.  I’m reminded, sometimes humorously, by some of the questions I receive.

3rdAutosomal DNA 2015 – Which Test is the Best? – From February 2015

This now obsolete article compared the autosomal tests from Family Tree DNA, Ancestry and 23andMe.  23andMe, as of year end (2015), is in the midst of rewriting their platform, which obsoletes some of the tools they offered previously.   As soon as the 23andMe transition to their new platform is complete, I’ll be writing an updated version of this article for 2016.  Until then, suffice it to say I am recommending Family Tree DNA and Ancestry, in that order.

2ndEthnicity Results – True or Not? – from October 2013

I can’t even begin to tell you how many questions I receive that go something like this:

“I received my ethnicity results from XYZ.  I’m confused.  The results don’t seem to align with my research and I don’t know what to make of them?”

1stProving Native American Ancestry Using DNA – From December 2012 – this has been the most popular article every year since 2012. This doesn’t surprise me, as it’s also the most common question I receive.

Every day, I receive e-mails very similar to this one.

“My family has always said that we were part Native American.  I want to prove this so that I can receive help with money for college.”

Interesting

I was surprised, at first, to see so many older posts, but then I realized they have had more time to accumulate hits.

Of these all-time Top 10, three of them, including the most popular, which is most popular by far, have to do with Native American ancestry, directly or indirectly. The most common questions I receive about ethnicity also relate to the discovery of Native American ancestry.

Thank you everyone for coming along with me on this on this wonderful journey.  It will be exciting to see what 2016 has to offer.  I already have some exciting research planned that I’ll be sharing with you.

Happy New Year everyone!  I’m wishing you new ancestors!

Native American Haplogroup C Update – Progress!!

native border

Haplogroup C-P39 is the Native American branch of Y DNA paternal haplogroup C.  It’s rare as chicken’s teeth.  Most Native American males fall into haplogroup Q, making our haplogroup C-P39 project participants quite unusual and unique.  So are the tools needed to identify branches on the Native American haplogroup C tree.

Last week, Family Tree DNA added a group of 9 SNPs found in haplogroup C to their product offering.  This was done without an announcement and without any fanfare – but it’s really important.  Without the ongoing support of Family Tree DNA, we wouldn’t have the Big Y test, nor the refining SNP tests that can be added to the Big Y in areas where the results are ambiguous.  Individuals who don’t want to purchase the Big Y can purchase these haplogroup defining SNPs individually as well.

The Native defining SNP for haplogroup C is P39.  People who test positive for C-P39 will then want to test Z30750 and Z30764.

  • Z30503
  • Z30601
  • FGC21495
  • Z30750
  • Z30764
  • PF3239
  • Z30729
  • FGC263
  • FGC31712

However, because haplogroup C-P39 is so rare – and to date – we have found several new SNPs in every man who has taken the Big Y test – and because those new, never before discovered SNPs are the bread crumbs that we need to follow to discover how our ancestors settled and dispersed across the Americas – we strong recommend the Big Y test at Family Tree DNA for all C-P39 men.  The Big Y test doesn’t just look at known SNP locations, it scans the entire Y chromosome for mutations.  Therefore, it’s both a genealogy and a research tool.

To that end, we very much want to fund this testing from the project coffers where necessary to advance our understanding.  Just to whet your appetite, we have participants now across Canada and also in the American Southwest.  We desperately want these men to take the Big Y test so we can get a much clearer picture of how they are related, and how many mutations they have individually – but don’t share – because that is how we estimate when they last shared a common ancestor.  In other words, the mutations build the branches of the tree.

This week, we’ve ordered another new C-P39 Big Y test.  If you are C-P39 – Native American haplogroup C – and have not yet taken the Big Y – please consider doing so.

If you are Native American and haplogroup C – please join the C-P39 and the American Indian projects.  You can do so from your home page at Family Tree DNA by clicking on the “Projects” tab at the upper left of your personal page, then on “join projects.”  You can search for the word “Indian” in the project list to find the American Indian project and scrolling down to the Y haplogroup projects and clicking on C will take you to the C-P39 link.

project join

If you can contribute to funding these Big Y tests, please do – even small amounts help.  The link to donate directly to the C-P39 project is: https://www.familytreedna.com/group-general-fund-contribution.aspx?g=Y-DNAC-P39

Each individual who takes the Big Y test is also encouraged to upgrade to 111 markers.  We need as much information as we can get.

Marie Rundquist and I are co-administrators of the C-P39 project, and she wrote the following verbiage in honor of the 5 year anniversary of the first discovery of what is now C-P39 in the Native Community.  We, as a community, have come a very long way in just 5 years!

It was in 2010, five years ago, when Keith Doucet first tested for the C P39 Y DNA (formerly C3b) Native American DNA type in the Amerindian Ancestry out of Acadia Family Tree DNA study — with numbers of Doucets (and Doucettes!) having the same, Native American, C P39 Y DNA result.  It’s amazing when you think of our journey and how much this research has benefitted our knowledge of our history in North America!

Who can ever forget Keith Doucet’s discovery? http://www.familyheritageresearchcommunity.org/doucet_dna.html

Or Emile Broome’s Y DNA discovery, also from 2010? http://www.familyheritageresearchcommunity.org/broome_dna.html

…and the subsequent discoveries of related Doucets and Doucettes and other project members from all regions of the US and Canada who tested in our project and whose results showed the same Native American C P39 Y DNA haplogroup type?

There is great similarity among the DNA test results for our C P39 Y DNA candidates despite differences in geographic locations and surnames, with testers from across the United States, including the American Southwest, the North East, the South, and Canada compared.  Initial Big Y DNA test results for project members have shown remarkable similarity as well.  Additional Big Y test results for tests underway and the availability of 9 new SNPs for our project members help us discover whether this trend is amplified by the additional tests or if we (the C P39 Y DNA project) can distinguish downstream uniqueness among our participants. The C P39 Y DNA test has received the generous support of its members, Family Tree DNA leadership and scientists, product managers, and volunteer administrators in establishing our superior C P39 Y DNA baseline and we are grateful for your support.

Visit the C P39 Y DNA project site to learn more. https://www.familytreedna.com/public/ydna_C-P39/

Thank you to our project members for your continued participation!  And thank you to Family Tree DNA for their ongoing dedication, research and support.  Collectively, we discover more of our history every day!

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Some Native Americans Had Oceanic Ancestors

This week has seen a flurry of new scientific and news articles.  What has been causing such a stir?  It appears that Australian or more accurately, Australo-Melanese DNA has been found in South America’s Native American population. In addition, it has also been found in Aleutian Islanders off the coast of Alaska.  In case you aren’t aware, that’s about 8,500 miles as the crow flies.  That’s one tired crow.  As the person paddles or walks along the shoreline, it’s even further, probably about 12,000 miles.

Aleutians to Brazil

Whatever the story, it was quite a journey and it certainly wasn’t all over flat land.

This isn’t the first inkling we’ve had.  Just a couple weeks ago, it was revealed that the Botocudo remains from Brazil were Polynesian and not admixed with either Native, European or African.  This admixture was first discovered via mitochondrial DNA, but full genome sequencing confirmed their ancestry and added the twist that they were not admixed – an extremely unexpected finding.  This is admittedly a bit confusing, because it implies that there were new Polynesian arrivals in the 1600s or 1700s.

Unlikely as it seems, it obviously happened, so we set that aside as relatively contemporary.

The findings in the papers just released are anything but contemporary.

The First Article

The first article in Science, “Genomic evidence for the Pleistocene and recent population history of Native Americans” by Raghaven et al published this week provides the following summary (bolding is mine):

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year isolation period in Beringia. Following their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 KYA, one that is now dispersed across North and South America and the other is restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative ‘Paleoamerican’ relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

This article in EurekAlert and a second one here discuss the Science paper.

Raghaven 2015

Migration map from the Raghaven paper.

The paper included the gene flow and population migration map, above, along with dates.

The scientists sequenced the DNA of 31 living individuals from the Americas, Siberia and Oceana as follows:

Siberian:

  • Altai – 2
  • Buryat – 2
  • Ket – 2
  • Kiryak – 2
  • Sakha – 2
  • Siberian Yupik – 2

North American Native:

  • Tsimshian (number not stated, but by subtraction, it’s 1)

Southern North American, Central and South American Native:

  • Pima – 1
  • Huichol -1
  • Aymara – 1
  • Yakpa – 1

Oceana:

  • Papuan – 14

The researchers also state that they utilized 17 specimens from relict groups such as the Pericues from Mexico and Fuego-Patagonians from the southernmost tip of South America.  They also sequenced two pre-Columbian mummies from the Sierra Tarahumara in northern Mexico.  In total, 23 ancient samples from the Americas were utilized.

They then compared these results with a reference panel of 3053 individuals from 169 populations which included the ancient Saqqaq Greenland individual at 400 years of age as well as the Anzick child from Montana from about 12,500 years ago and the Mal’ta child from Siberia at 24,000 years of age.

Not surprisingly, all of the contemporary samples with the exception of the Tsimshian genome showed recent western Eurasian admixture.

As expected, the results confirm that the Yupik and Koryak are the closest Eurasian population to the Americas.  They indicate that there is a “clean split” between the Native American population and the Koryak about 20,000 years ago.

They found that “Athabascans and Anzick-1, but not the Greenlandis Inuit and Saqqaq belong to the same initial migration wave that gave rise to present-day Amerindians from southern North America and Central and South America, and that this migration likely followed a coastal route, given our current understanding of the glacial geological and paleoenvironmental parameters of the Late Pleistocene.”

Evidence of gene flow between the two groups was also found, meaning between the Athabascans and the Inuit.  Additionally, they found evidence of post-split gene flow between Siberians and Native Americans which seems to have stopped about 12,000 years ago, which meshes with the time that the Beringia land bridge was flooded by rising seas, cutting off land access between the two land masses.

They state that the results support all Native migration from Siberia, contradicting claims of an early migration from Europe.

The researchers then studied the Karitiana people of South America and determined that the two groups, Athabascans and Karitiana diverged about 13,000 years ago, probably not in current day Alaska, but in lower North America.  This makes sense, because the Clovis Anzick child, found in Montana, most closely matches people in South America.

By the Clovis period of about 12,500 years ago, the Native American population had already split into two branches, the northern and southern, with the northern including Athabascan and other groups such as the Chippewa, Cree and Ojibwa.  The Southern group included people from southern North America and Central and South America.

Interestingly, while admixture with the Inuit was found with the Athabascan, Inuit admixture was not found among the Cree, Ojibwa and Chippewa.  The researchers suggest that this may be why the southern branch, such as the Karitiana are genetically closer to the northern Amerindians located further east than to northwest coast Amerindians and Athabascans.

Finally, we get to the Australian part.  The researchers when trying to sort through the “who is closer to whom” puzzle found unexpected results.  They found that some Native American populations including Aleutian Islanders, Surui (Brazil) and Athabascans are closer to Australo-Melanesians compared to other Native Americans, such as Ojibwa, Cree and Algonquian and South American Purepecha (Mexico), Arhuaco (Colombia) and Wayuu (Colombia, Venezuela).  In fact, the Surui are one of the closest populations to East Asians and Australo-Melanese, the latter including Papuans, non-Papuan Melanesians, Solomon Islanders and hunter-gatherers such as Aeta. The researchers acknowledge these are weak trends, but they are nonetheless consistently present.

Dr. David Reich, from Harvard, a co-author of another paper, also published this past week, says that 2% of the DNA of Amazonians is from Oceana.  If that is consistent, it speaks to a founder population in isolation, such that the 2% just keeps getting passed around in the isolated population, never being diluted by outside DNA.  I would suggest that is not a weak signal.

The researchers suggest that the variance in the strength of this Oceanic signal suggests that the introduction of the Australo-Melanese occurred after the initial peopling of the Americas.  The ancient samples cluster with the Native American groups and do not show the Oceanic markers and show no evidence of gene flow from Oceana.

The researchers also included cranial morphology analysis, which I am omitting since cranial morphology seems to have led researchers astray in the past, specifically in the case of Kennewick man.

One of the reasons cranial morphology is such a hotly debated topic is because of the very high degree of cranial variance found in early skeletal remains.  One of the theories evolving from the cranial differences involving the populating of the Americans has been that the Australo-Melanese were part of a separate and earlier migration that gave rise to the earliest Americans who were then later replaced by the Asian ancestors of current day Native Americans.  If this were the case, then the now-extinct Fuego-Patagonains samples from the location furthest south on the South American land mass should have included DNA from Oceana, but it didn’t.

The Second Article

A second article published this week, titled “’Ghost population’ hints at long lost migration to the Americas” by Ellen Callaway discusses similar findings, presented in a draft letter to Nature titled “Genetic evidence for two founding populations of the Americas” by Skoglund et al.  This second group discovers the same artifact Australo-Melanesian DNA in Native American populations but suggests that it may be from the original migration and settlement event or that there may have been two distinct founding populations that settled at the same time or that there were two founding events.

EurekAlert discusses the article as well.

It’s good to have confirmation and agreement between the two labs who happened across these results independently that the Australo-Melanesian DNA is present in some Native populations today.

Their interpretations and theories about how this Oceanic DNA arrived in some of the Native populations vary a bit, but if you read the details, it’s really not quite as different as it first appears from the headlines.  Neither group claims to know for sure, and both discuss possibilities.

Questions remain.  For example, if the founding group was small, why, then, don’t all of the Native people and populations have at least some Oceanic markers?  The Anzick Child from 12,500 years ago does not.  He is most closely related to the tribes in South America, where the Oceanic markers appear with the highest frequencies.

In the Harvard study, the scientists fully genome sequenced 63 individuals without discernable evidence of European or African ancestors in 21 Native American populations, restricting their study to individuals from Central and South America that have the strongest evidence of being entirely derived from a homogenous First American ancestral population.

Their results show that the two Amazonian groups, Surui and Karitians are closest to the “Australasian populations, the Onge from the Andaman Island in the Bay of Bengal (a so-called ‘Negrito’ group), New Guineans, Papuans and indigenous Australians.”  Within those groups, the Australasian populations are the only outliers – meaning no Africans, Europeans or East Asian DNA found in the Native American people.

When repeating these tests, utilizing blood instead of saliva, a third group was shown to also carry these Oceanic markers – the Xavante, a population from the Brazilian plateau that speaks a language of the Ge group that is different from the Tupi language group spoke by the Karitians and Surui.

Skoglund 2015-2

The closest populations that these Native people matched in Oceana, shown above on the map from the draft Skoglund letter, were, in order, New Guineans, Papuans and Andamanese.  The researchers further state that populations from west of the Andes or north of the Panama isthmus show no significant evidence of an affinity to the Onge from the Andaman Islands with the exception of the Cabecar (Costa Rica).

That’s a very surprising finding, given that one would expect more admixture on the west, which is the side of the continent where the migration occurred.

The researchers then compared the results with other individuals, such as Mal’ta child who is known to have contributed DNA to the Native people today, and found no correlation with Oceanic DNA.  Therefore, they surmised that the Oceanic admixture cannot be explained by a previously known admixture event.

They propose that a mystery population they have labeled as “Population Y” (after Ypykuera which means ancestor in the Tupi language family) contributed the Australasian lineage to the First Americans and that is was already mixed into the lineage by the time it arrived in Brazil.

According to their work, Population Y may itself have been admixed, and the 2% of Oceanic DNA found in the Brazilian Natives may be an artifact of between 2 and 85% of the DNA of the Surui, Karitiana and Xavante that may have come from Population Y.  They mention that this result is striking in that the majority of the craniums that are more Oceanic in Nature than Asiatic, as would be expected from people who migrated from Siberia, are found in Brazil.

They conclude that the variance in the presence or absence of DNA in Native people and remains, and the differing percentages argue for more than one migration event and that “the genetic ancestry of Native Americans from Central and South America cannot be due to a single pulse of migration south of the Late Pleistocene ice sheets from a homogenous source population, and instead must reflect at least two streams of migration or alternatively a long drawn out period of gene flow from a structured Beringian or Northeast Asian source.”

Perhaps even more interesting is the following statement:

“The arrival of population Y ancestry in the Americas must in any scenario have been ancient: while Population Y shows a distant genetic affinity to Andamanese, Australian and New Guinean populations, it is not particularly closely related to any of them, suggesting that the source of population Y in Eurasia no longer exists.”

They further state they find no admixture indication that would suggest that Population Y arrived in the last few thousand years.

So, it appears that perhaps the Neanderthals and Denisovans were not the only people who were our ancestors, but no longer exist as a separate people, only as an admixed part of us today.  We are their legacy.

The Take Away

When I did the Anzick extractions, we had hints that something of this sort might have been occurring.  For example, I found surprising instances of haplogroup M, which is neither European, African nor Native American, so far as we know today.  This may have been a foreshadowing of this Oceanic admixture.  It may also be a mitochondrial artifact.  Time will tell.  Perhaps haplogroup M will turn out to be Native by virtue of being Oceanic and admixed thousands of years ago.  There is still a great deal to learn.  Regardless of how these haplogroups and Oceanic DNA arrived in Brazil in South America and in the Aleutian Islands off of Alaska, one thing is for sure, it did.

We know that the Oceanic DNA found in the Brazilian people studied for these articles is not contemporary and is ancient.  This means that it is not related to the Oceanic DNA found in the Botocudo people, who, by the way, also sport mitochondrial haplogroups that are within the range of Native people, meaning haplogroup B, but have not been found in other Native people.  Specifically, haplogroups B4a1a1 and B4a1a1a.  Additionally, there are other B4a1a, B4a1b and B4a1b1 results found in the Anzick extract which could also be Oceanic.  You can see all of the potential and confirmed Native American mitochondrial DNA results in my article “Native American Mitochondrial Haplogroups” that I update regularly.

We don’t know how or when the Botocudo arrived, but the when has been narrowed to the 1600s or 1700s.  We don’t know how or when the Oceanic DNA in the Brazilian people arrived either, but the when was ancient.  This means that Oceanic DNA has arrived in South America at least twice and is found among the Native peoples both times.

We know that some Native groups have some Oceanic admixture, and others seem to have none, in particular the Northern split group that became the Cree, Ojibwa, Algonquian, and Chippewa.

We know that the Brazilian Native groups are most closely related to Oceanic groups, but that the first paper also found Oceanic admixture in the Aleutian Islands.  The second paper focused on the Central and South American tribes.

We know that the eastern American tribes, specifically the Algonquian tribes are closely related to the South Americans, but they don’t share the Oceanic DNA and neither do the mid-continent tribes like the Cree, Ojibwa and Chippewa.  The only Paleolithic skeleton that has been sequenced, Anzick, from 12,500 years ago in Montana also does not carry the Oceanic signature.

In my opinion, the disparity between who does and does not carry the Oceanic signature suggests that the source of the Oceanic DNA in the Native population could not have been a member of the first party to exit out of Beringia and settle in what is now the Americas.  Given that this had to be a small party, all of the individuals would have been thoroughly admixed with each other’s ancestral DNA within just a couple of generations.  It would have been impossible for one ancestor’s DNA to only be found in some people.  To me, this argues for one of two scenarios.

First, a second immigration wave that joined the first wave but did not admix with some groups that might have already split off from the original group such as the Anzick/Montana group.

Second, multiple Oceanic immigration events.  We still have to consider the possibility that there were multiple events that introduced Oceanic DNA into the Native population.  In other words, perhaps the Aleutian Islands Oceanic DNA is not from the same migration event as the Brazilian DNA which we know is not from the same event as the Botocudo.  I would very much like to see the Oceanic DNA appear in a migration path of people, not just in one place and then the other.  We need to connect the dots.

What this new information does is to rule out the possibility that there truly was only one wave of migration – one group of people who settled the Americas at one time.  More likely, at least until the land bridge submerged, is that there were multiple small groups that exited Beringia over the 8,000 or so years it was inhabitable.  Maybe one of those groups included people from Oceana.  Someplace, sometime, as unlikely as it seems, it happened.

The amazing thing is that it’s more than 10,000 miles from Australia to the Aleutian Islands, directly across the Pacific.  Early adventurers would have likely followed a coastal route to be sustainable, which would have been significantly longer.  The fact that they survived and sent their DNA on a long adventure from Australia to Alaska to South America – and it’s still present today is absolutely amazing.

Australia to Aleutians

We know we still have a lot to learn and this is the tip of a very exciting iceberg.  As more contemporary and ancient Native people have their full genomes sequenced, we’ll learn more answers.  The answer is in the DNA.  We just have to sequence enough of it and learn how to understand the message being delivered.

DNA Testing Strategy for Adoptees and People with Uncertain Parentage

Adoptees aren’t the only people who don’t know who their parents are.  There are many people who don’t know the identity of one of their two parents…and it’s not always the father.  Just this week, I had someone who needed to determine which of two sisters was her mother.  Still, the “who’s your Daddy” crowd, aside from adoptees, is by far the largest.

The DNA testing strategy for both of these groups of people is the same, with slight modifications for male or female. Let’s take a look.

Males have three kinds of DNA that can be tested and then compared to other participants’ results.  The tests for these three kinds of DNA provide different kinds of information which is useful in different ways.  For example, Y DNA testing may give you a surname, if you’re a male, but the other two types of tests can’t do that, at least not directly.

Females only have two of those kinds of DNA that can be tested.  Females don’t have a Y chromosome, which is what makes males male genetically.

adopted pedigree

If you look at this pedigree chart, you can see that the Y chromosome, in blue, is passed from the father to the son, but not to daughters.  It’s passed intact, meaning there is no admixture from the mother, who doesn’t have a Y chromosome, because she is female.  The Y chromosome is what makes males male.

The second type of DNA testing is mitochondrial, represented by the red circles.  It is passed from the mother to all of her children, of both genders, intact – meaning her mitochondrial DNA is not admixed with the mtDNA of the father.  Woman pass their mtDNA on to their children, men don’t.

Therefore when you test either the Y or the mtDNA, you get a direct line view right down that branch of the family tree – and only that direct line on that branch of the tree.  Since there is no admixture from spouses in any generation, you will match someone exactly or closely (allowing for an occasional mutation or two) from generations ago.  Now, that’s the good and the bad news – and where genealogical sleuthing comes into play.

On the chart above, the third kind of DNA testing, autosomal DNA, tests your DNA from all of your ancestors, meaning all of those boxes with no color, not just the blue and red ones, but it does include the blue and red ancestors too.  However, autosomal DNA (unlike Y and mtDNA) is diluted by half in each generation, because you get half of your autosomal DNA from each parent, so only half of the parents DNA gets passed on to each child.

Let’s look at how these three kinds of DNA can help you identify your family members.

Y DNA

Since the Y DNA typically follows the paternal surname, it can be extremely helpful for males who are searching for their genetic surname.  For example, if your biological father’s surname is Estes, assuming he is not himself adopted or the product of a nonpaternal event (NPE) which I like to refer to as undocumented adoptions, his DNA will match that of the Estes ancestral line.  So, if you’re a male, an extremely important test will be the Y DNA test from Family Tree DNA, the only testing company to offer this test.

Let’s say that you have no idea who your bio-father is, but when your results come back you see a preponderance of Estes men whom you match, as well as your highest and closest matches being Estes.

By highest, I mean on the highest panel you tested – in this case 111 markers.  And by closest, I mean with the smallest genetic distance, or number of mutations difference.  On the chart below, this person matches only Estes males at 111 markers, and one with only 1 mutation difference (Genetic Distance.)  Please noted that I’ve redacted first names.

Hint for Mr. Hilbert, below – there is a really good chance that you’re genetically Estes on the direct paternal side – that blue line.

Estes match ex

The next step will be to see which Estes line you match the most closely and begin to work from there genealogically.  In this case, that would be the first match with only one difference.  Does your match have a tree online?  In this case, they do – as noted by the pedigree chart icon.  Contact this person.  Where did their ancestors live?  Where did their descendants move to?  Where were you born?  How do the dots connect?

The good news is, looking at their DNA results, you can see that your closest match has also tested autosomally, indicated by the FF icon, so you can check to see if you also match them on the Family Finder test utilizing the Advanced Matching Tool.  That will help determine how close or distantly related you are to the tester themselves.  This gives you an idea how far back in their tree you would have to look for a common ancestor.

Another benefit is that your haplogroup identifies your deep ancestral clan, for lack of a better word.  In other words, you’ll know if your paternal ancestor was European, Asian, Native American or African – and that can be a hugely important piece of information.  Contrary to what seems intuitive, the ethnicity of your paternal (or any) ancestor is not always what seems evident by looking in the mirror today.

Y DNA – What to order:  From Family Tree DNA, the 111 marker Y DNA test.  This is for males only.  Family Tree DNA is the only testing company to provide this testing.  Can you order fewer markers, like 37 or 67?  Yes, but it won’t provide you with as much information or resolution as ordering 111 markers.  You can upgrade later, but you’ll curse yourself for that second wait.

FTDNA Y

Mitochondrial DNA

Males and females both can test for mitochondrial DNA.  Matches point to a common ancestor directly up the matrilineal side of your family – your mother, her mother, her mother – those red circles on the chart.  These matches are more difficult to work with genealogically, because the surnames change in every generation.  Occasionally, you’ll see a common “most distant ancestor” between mitochondrial DNA matches.

Your mitochondrial DNA is compared at three levels, but the most accurate and detailed is the full sequence level which tests all 16,569 locations on your mitochondria.  The series of mutations that you have forms a genetic signature, which is then compared to others.  The people you match the most closely at the full sequence level are the people with whom you are most likely to be genealogically related to a relevant timeframe.

You also receive your haplogroup designation with mitochondrial DNA testing which will place you within an ethnic group, and may also provide more assistance in terms of where your ancestors may have come from.  For example, if your haplogroup is European and you match only people from Norway….that’s a really big hint.

Using the Advanced Matching Tool, you can also compare your results to mitochondrial matches who have taken the autosomal Family Finder test to see if you happen to match on both tests.  Again, that’s not a guarantee you’re a close relative on the mitochondrial side, but it’s a darned good hint and a place to begin your research.

Mitochondrial DNA – What to Order:  From Family Tree DNA, the mitochondrial full sequence test.  This is for males and females both.  Family Tree DNA is the only company that provides this testing.

FTDNA mtDNA

Autosomal DNA

Y and mitochondrial DNA tests one line, and only one line – and shoots like a laser beam right down that line, telling you about the recent and deep history of that particular lineage.  In other words, those tests are deep and not wide.  They can tell you nothing about any of your other ancestors – the ones with no color on the pedigree chart diagram – because you don’t inherit either Y or mtDNA from those ancestors.

Autosomal DNA, on the other hand tends to be wide but not deep.  By this I mean that autosomal DNA shows you matches to ancestors on all of your lines – but only detects relationships back a few generations.  Since each child in each generation received half of their DNA from each parent – in essence, the DNA of each ancestor is cut in half (roughly) in each generation.  Therefore, you carry 50% of the DNA of your parents, approximately 25% of each grandparent, 12.5% of the DNA of each great-grandparent, and so forth.  By the time you’re back to the 4th great-grandparents, you carry only about 1% of the DNA or each of your 64 direct ancestors in that generation.

What this means is that the DNA testing can locate common segments between you and your genetic cousins that are the same, and if you share the same ancestors,  you can prove that this DNA in fact comes from a specific ancestor.  The more closely you are related, the more DNA you will share.

Another benefit that autosomal testing provides is an ethnicity prediction.  Are these predictions 100% accurate?  Absolutely not!  Are they generally good in terms of identifying the four major ethnic groups; African, European, Asian and Native American?  Yes, so long at the DNA amounts you carry of those groups aren’t tiny.  So you’ll learn your major ethnicity groups.  You never know, there may be a surprise waiting for you.

FTDNA myOrigins

The three vendors who provide autosomal DNA testing and matching all provide ethnicity estimates as well, and they aren’t going to agree 100%.  That’s the good news and often makes things even more interesting.  The screen shot below is the same person at Ancestry as the person above at Family Tree DNA.

Ancestry ethnicity

If you’re very lucky, you’ll test and find an immediate close match – maybe even a parent, sibling or half-sibling.  It does happen, but don’t count on it.  I don’t want you to be disappointed when it doesn’t happen.  Just remember, after you test, your DNA is fishing for you 24X7, every single hour of every single day.

If you’re lucky, you may find a close relative, like an uncle or first cousin.  You share a common grandparent with a first cousin, and that’s pretty easy to narrow down.  Here’s an example of matching from Family Tree DNA.

FTDNA close match

If you’re less lucky, you’ll match distantly with many people, but by using their trees, you’ll be able to find common ancestors and then work your way forward, based on how closely you match these individuals, to the current.

Is that a sometimes long process?  Yes.  Can it be done?  Absolutely.

If you are one of the “lottery winner” lucky ones, you’ll have a close match and you won’t need to do the in-depth genealogy sleuthing.  If you are aren’t quite as lucky, there are people and resources to help you, along with educational resources.  www.dnaadoption.com provides tools and education to teach you how to utilize autosomal DNA tools and results.

Of course, you won’t know how lucky or unlucky you are unless you test.  Your answer, or pieces of your answer, may be waiting for you.

Unlike Y and mtDNA testing, Family Tree DNA is not the only company to provide autosomal of testing, although they do provide autosomal DNA testing through their Family Finder test.

There are two additional companies that provide this type of testing as well, 23andMe and Ancestry.com.  You should absolutely test with all three companies, or make sure your results are in all three data bases.  That way you are fishing in all of the available ponds directly.

If you have to choose between testing companies and only utilize one, it would be a very difficult choice.  All three have pros and cons.  I wrote about that here.  The only thing I would add to what I had to say in the comparison article is that Family Tree DNA is the only one of the three that is not trying to obtain your consent to sell your DNA out the back door to other entities.  They don’t sell your DNA, period.  You don’t have to grant that consent to either Ancestry or 23andMe, but be careful not to click on anything you don’t fully understand.

Family Tree DNA accepts transfers of autosomal data into their data base from Ancestry.  They also accept transfers from 23andMe if you tested before December of 2013 when 23andMe reduced the number of locations they test on their V4 chip

Autosomal DNA:  What to Order

Ancestry.com’s DNA product at http://www.ancestry.com – they only have one and it’s an autosomal DNA test

23andMe’s DNA product at http://www.23andMe.com – they only have one and it’s an autosomal DNA test

Family Tree DNA – either transfer your data from Ancestry or 23andMe (if you tested before December 2013), or order the Family Finder test. My personal preference is to simply test at Family Tree DNA to eliminate any possibility of a file transfer issue.

FTDNA FF

Third Party Autosomal Tools

The last part of your testing strategy will be to utilize various third party tools to help you find matches, evaluate and analyze results.

GedMatch

At GedMatch, the first thing you’ll need to do is to download your raw autosomal data file from either Ancestry or Family Tree DNA and upload the file to www.gedmatch.com.  You can also download your results from 23andMe, but I prefer to utilize the files from either of the other two vendors, given a choice, because they cover about 200,000 additional DNA locations that 23andMe does not.

Ancestry.com provides you with no tools to do comparisons between your DNA and your matches.  In other words, no chromosome browser or even information like how much DNA you share.  I wrote about that extensively in this article, and I don’t want to belabor the point here, other than to say that GedMatch levels the playing field and allows you to eliminate any of the artificial barriers put in place by the vendors.  Jim Bartlett just wrote a great article about the various reasons why you’d want to upload your data to Gedmatch.

GedMatch provides you with many tools to show to whom you are related, and how.  Used in conjunction with pedigree charts, it is an invaluable tool.  Now, if we could just convince everyone to upload their files.  Obviously, not everyone does, so you’ll still need to work with your matches individually at each of the vendors and at GedMatch.

GedMatch is funded by donations or an inexpensive monthly subscription for the more advanced tools.

DNAGEDCOM.com

Another donation based site is http://www.dnagedcom.com which offers you a wide range of analytical tools to assist with making sense of your matches and their trees.  DNAGEDCOM works closely with the adoption community and focuses on the types of solutions they need to solve their unique types of genealogy puzzles.  While everyone else is starting in the present and working their way back, adoptees are starting with the older generations and piecing them together to come forward to present.  Their tools aren’t just for adoptees though.  Tools such as the Autosomal DNA Segment Analyzer are great for anyone.  Visit the site and take a look.

Third Party Y and Mitochondrial Tools – YSearch and MitoSearch

Both www.ysearch.org and www.mitosearch.org are free data bases maintained separately from Family Tree DNA, but as a courtesy by Family Tree DNA.  Ysearch shows only a maximum of 100 markers for Y DNA and Mitosearch doesn’t show the coding region of the mitochondrial DNA, but they do allow users to provide their actual marker values for direct comparison, in addition to other tools.

Furthermore, some people who tested at other firms, when other companies were doing Y and mtDNA testing, have entered their results here, so you may match with people who aren’t matches at Family Tree DNA.  Those other data bases no longer exist, so Ysearch or Mitosearch is the only place you have a prayer of matching anyone who tested elsewhere.

You can also adjust the match threshold so that you can see more distant matches than at Family Tree DNA.  You can download your results to Ysearch and Mitosearch from the bottom of your Family Tree DNA matches page.

Mitosearch upload

Answer the questions at Mito or Ysearch, and then click “Save Information.”  When you receive the “500” message that an error has occurred at the end of the process, simply close the window.  Your data has been added to the data base and you can obtain your ID number by simply going back to your match page at Family Tree DNA and clicking on the “Upload to Ysearch” or Mitosearch link again on the bottom of your matches page.  At that point, your Y or mitosearch ID will be displayed.  Just click on “Search for Genetic Matches” to continue matching.

Get Going!

Now that you have a plan, place your orders and in another 6 to 8 weeks, you’ll either solve the quandry or at least begin to answer your questions.  Twenty years ago you couldn’t have begun to unravel your parentage using DNA.  Now, it’s commonplace.  Your adventure starts today.

Oh, and congratulations, you’ve just become a DNA detective!

I wish you success on your journey – answers, cousins, siblings and most importantly, your genetic family.  Hopefully, one day it will be you writing to me telling me how wonderful it was to meet your genetic family for the first time, and what an amazing experience it was to look across the dinner table and see someone who looks like you.