New Haplogroup C Native American Subgroups

Haplogroup C is one of two haplogroups, the other being Q, which are found as part of the Native American paternal population in the Americas.  Both C and Q were founded in Asia and subgroups of both are found today in Asia, Europe and the New World.  The subgroups found in the Americas are generally unique to that location.  I wrote about some of the early results of haplogroup Q being divided into subgroups through Big Y testing here.

In the Americas, haplogroup Q is much more prevalent in the Native population.  Haplogroup C is rarely found and originally, mostly in Canada.

Hap C Americas

This chart, compliments of Family Tree DNA, shows the frequency distribution in the Americas between haplogroups Q and C.

However, in the Zegura et al article in 2004, haplogroup C was found in very small percentages elsewhere.

The authors found the following P39 men among the samples:

Northern Athabaskan:

  • Tanana of Alaska, 5 of 12

Southern Athabaskan:

  • Apache, 14 of 96
  • Navajo, 1 of 78

Algonquian (Plains):

  • Cheyenne, 7 of 44

Siouan–Catawban (Plains):

  • Sioux, 5 of 44

I was speaking with Spencer Wells (from the Genographic Project) about this at one point and he said to keep in mind that the Athabaskan migration to the Southwest was only about 600 years ago. That is why our one Southwestern C-P39 looks like he is related to all the other families about 600 years ago.

There are competing theories about whether the Athabaskan came down across the plains or along the western mountains/coast. I found a few recent studies that say both are likely true.  We don’t know if the C-P39 found on the Plains is residual from the migration event or from another source.

In the American Indian DNA Project and other relevant DNA projects, we find haplogroup C in New Mexico, Virginia, Illinois, Canada, New Brunswick, Ontario and Nova Scotia.

In 2012, Marie Rundquist, founder of the Amerindian Ancestry Out of Acadia DNA Project as well as co-founder the C-P39 DNA project wrote a paper titled “C3b Y Chromosome DNA Test Results Point to Native American Deep Ancestry, Relatedness, among United States and Canadian Study Participants.

At this that time, haplogroup C-P39 (formerly C3b) was the only identified Native American subgroup of haplogroup C.  Since that time, additional people have tested and the Big Y has been introduced.  Just recently, another subgroup of haplogroup C, C-M217, was proven to be Native and can be seen as the first line in the haplotree chart shown below.

The past 18 months or so with the advent of full genome sequencing of the Y chromosome with the Big Y test from Family Tree DNA and other similar tests have provided significant information about new haplotree branches in all haplogroups.

Ray Banks, one of the administrators of the Y DNA haplogroup C project and a haplogroup coordinator for the ISOGG tree has been focused on sorting the newly found SNPs and novel variants discovered during Big Y testing into their proper location on the Y haplogroup tree.

I asked Ray to write a summary of his findings relative to the Native American aspect of haplogroup C.  He kindly complied, as follows:

By way of a simplified explanation, a 2012 study by Dulik et al. reported that southern Altains (south central Russia) were the closest living relatives of Amerindian Haplogroup Q men they could identify.

Male haplogroup Q is the dominant finding within Amerindian populations of the Americas.

But male haplogroup C-P39 is also found in smaller percentages among Amerindians of North America.  A second type, of a different, poorly defined C, has been identified among rainforest Indians of northwestern South America.

The 2004 study by Zegura et al. reported that C-P39 was present in some quantities among some Plains and Southwest Indians of the United State, as well among Tananas of Alaska.  No one has done a comprehensive inventory of Amerindian Y-DNA haplogroups.  A high percentage of the Amerindian samples at Family Tree DNA that are P39, in contrast, report ancestry in central or eastern Canada.

It does not seem that anyone has yet definitively addressed whether C-P39 men have a different relationship pattern in relation to Asian groups than seen in haplogroup Q.  Another question is whether they might have been involved in a more recent migration from Asia than Q men who seem to have quickly migrated to all areas of South America as well.

Four men in the Haplogroup C Projects have made their Big Y results available for analysis.  All are from Canada, living in areas varying from central to maritime Canada.

These results show that the four men can be divided into two main groups.  The mutations Z30750 and Z30764 have been tentatively assigned to represent these subgroups.  The number of unique mutations for each man suggests these two subgroups each diverged from the overall P39 group about 3,500 years ago.  This is based on the 150 years per mutation figure that is being widely used.  There is no consensus for what number of years per mutation should be used.  Likewise, the total number of shared SNPs within P39, suggests 14,100 years as the divergence time from any other identified Y-DNA subgroup.  The Composite Y-DNA Tree by Ray Banks contains about 3,700 Y subgroups for comparison.

Ray Banks C Tree 3

The nearest subgroup to P39 has been identified as the F1756 subgroup, last line in the chart above.  These both share as a common earlier subgroup, F4015.   This parallel F1756 subgroup has been identified in Geno 2.0 testing as well as Big Y as containing mostly men from Kazakhstan, Kyrgyzstan and Afghanistan.  Some apparently have a tradition of a migration from Siberia.

There is available a Big Y test from among this group, and more recently complete Y sequencing in the sample file GS27578 at the Estonian Genome Centre.

Each of these men potentially could have shared one or more of the P39 equivalents creating a new subgroup older than P39.  But this is not the case.  The Big Y results are not complete genome sequencing, and they perhaps miss 30% of useful SNPs, mostly due to inconclusive reads.

The man in the Estonian collection is of particular interest because he is described as an Altaian of Kaysyn in Siberia, Russia.  He is not from the same town as samples in the earlier Dulik study, and thus no direct comparisons can be made.

The Big Y F1756 sample is geographically atypical because the man is Polish but still shares the unusual DYS448=null feature seen in all the available F1756 men in the C Project.  The project P39 men have either 20 or 21 repeats at this marker, instead of a null value.

In conclusion, the age of the P39 group and the failure of others so far to share its many equivalent mutations suggest together that the C-P39 men could have been part of the earliest migration to the Americas.  Like the Q men, the nearest relatives to C-P39 men have central Asian or Siberian origins.

Despite some identification of P39 branching.  Much work needs to be done to understand the branching due to the lack of availability of samples.

So, what’s the bottom line?

  1. C-P39 is being divided into subgroups as more Big Y and similar test results become available. If additional individuals who carry C-P39 were to take the Big Y test, especially from the more unusual locations, we might well find additional new, undiscovered, haplogroups or subgroups.  Eventually, we may be able to associate subgroups with tribes or at least languages or regions.
  2. If you are a Y DNA haplogroup C individual, and in particular C-P39, and have taken the Big Y test, PLEASE join the haplogroup C and C-P39 projects. Without a basis for comparison, much of the benefit of these tests in terms of understanding haplogroup structure is lost entirely.

As always, the power of DNA testing is in sharing and comparing.

Thank you Ray Banks, Marie Rundquist and DNA testers who have contributed by testing and sharing.

Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American

Mitochondrial DNA provides us with a unique periscope back in time to view our most distant ancestors, and the path that they took through time and place to become us, here, today.  Because mitochondrial DNA is passed from generation to generation through an all-female line, un-admixed with the DNA from the father, the mitochondrial DNA we carry today is essentially the same as that carried by our ancestors hundreds or even thousands of years ago, with the exception of an occasional mutation.

Y and mito

You can see in the pedigree chart above that the red mitochondrial DNA is passed directly down the matrilineal line.  Women contribute their mitochondrial DNA to all of their children, of both genders, but only the females pass it on.

Because this DNA is preserved in descendants, relatively unchanged, for thousands of years, we can equate haplogroups, or clans, to specific regions of the world where that particular haplogroup was born by virtue of a specific mutation.  All descendants carry that mutation from that time forward, so they are members of that new haplogroup.

For example, here we see the migration path of haplogroup A, after being born in the Middle East, spreading across Eurasia into the Americas, courtesy of Family Tree DNA.

Hap A map crop

This pie chart indicates the frequency level at which haplogroup A is found in the Americas as compared to haplogroups B, C, D and X.

Hap A distribution

However, not all of haplogroup A arrived in the Americas.  Some subgroups are found along the path in Asia, and some made their way into Europe.  There are currently 48 sub-haplogroups of haplogroup A defined, with most of them being found in Asia.  Every new haplogroup and sub-haplogroup is defined by a new mutation that occurs in that line.  I wrote about how this works recently in the article, Haplogroups and The Three Brothers.

In the Americas, Native American mitochondrial haplogroups are identified by being subgroups of haplogroup A, B, C, D and X, as shown in the chart below.

beringia map

In the paper, Beringian Standstill and Spread of Native American Founders, by Tamm et al (2007), haplogroup A2 was the only haplogroup A subgroup identified as being Native American.

As of that time, no other sub-haplogroups of A had been found in either confirmed Native American people or burials.

In June, 2013, I realized that a subgroup of mitochondrial haplogroup A4 might, indeed, be Native American.

The haplogroup A4 project was formed as a research project with Marie Rundquist as a co-administrator and we proceeded to recruit people to join who either were haplogroup A4 or a derivative at Family Tree DNA, or had tested at Ancestry.com and appeared to be haplogroup A4 based on a specific mutation at location 16249 in the HVR1 region.  As it turns out, location 16249 is a haplogroup defining marker for haplogroup A4a1.

There weren’t many of these Ancestry people – maybe 20 in total at that time.  Ancestry has since discontinued their mitochondrial and Y DNA testing and has destroyed the data base, so it’s a good thing I checked when I did.  That resource is gone today.

Family Tree DNA has always been extremely supportive of scientific studies, whether through traditional academic channels or via citizen science, and they were kind enough to subsidize our testing efforts by offering reduced prices for mitochondrial testing to project members.  I want to thank them for their support.

Other haplogroup administrators have also been supportive.  I contacted the haplogroup A administrator and she was kind enough to send e-mails to her project members who were qualified to join the A4 project.  Supportive collaboration is critically important.

I wrote an article about the possibility that A4 might be Native, and through that article, raised money to enable people to test at Family Tree DNA or upgrade to the full sequence test.  Full sequence testing is critical to obtaining a full haplogroup designation.  Many of these people were only, at that time, defined by HVR1 or HVR1+HVR2 testing as haplogroup A.  Haplogroup A is, indeed, a Native American haplogroup, but it’s also an Asian haplogroup and we see it in Europe from time to time as well.  The only way to tell the difference between these groups is through full sequence testing.  Haplogroup A was born in Asia, about 30,000 years ago and has many subgroups.

What Do We Know About Haplogroup A4?

Haplogroup A4 has been identified as a subgroup of the parent haplogroup A and is the parent haplogroup of A2.  In essence, haplogroup A gave birth (through a mutation) to subgroup A4 who gave birth through a mutation to subgroup A2.

To date, before this research, all confirmed Native American haplogroups were subgroups of haplogroup A2.

In the Kumar et al 2011 paper, Schematic representation of mtDNA phylogenetic tree of Native American haplogroups A2 and B2 and immediate Siberian-Asian sister clades (A2a, A2b, A4a, A4b and A4c), no A4 was reported in the Americas, although A4 is clearly shown as the parent haplogroup of A2, which is found in the Americas.

On the graph below, from the paper, you can see the color coded “tabs” to the right of the haplogroup A designations that indicate where this haplogroup is found.  As you can see, A4 and subgroups is found only in Siberia and Asia, not in the Americas, which is indicated by yellow.

Hap A and B genesis

Schematic representation of mtDNA phylogenetic tree of Native American haplogroups A2 and B2 and immediate Siberian-Asian sister clades (A2a, A2b, A4a, A4b and A4c). Coalescent age calculated in thousand years (ky) as per the slow mutation rate of Mishmar et al. [58] and as per calibrated mutation rate of Soares et al. [59] are indicated in blue and red color respectively. The founder age wherever calculated are italicized. The geographical locations of the samples are identified with colors. For more details see complete phylogenetic reconstruction in additional file 2 (panels A-B) and additional file 3. Kumar et al. BMC Evolutionary Biology 2011 11:293 doi:10.1186/1471-2148-11-293

I then checked both GenBank and www.mtdnacommunity.org for haplogroup A4 submissions.  Ian Logan’s checker program makes it easy to check submissions by haplogroup.

MtDNACommunity reflected one A4 submission from Mexico and from the United States, which does not necessarily mean that the United States submission is indigenous – simply that is where the submission originated.  The balance of the submissions are from either academic papers or from Asia.

During this process, I utilized PhyloTree, Build 15, shown below, as my reference tree.  Build 16 was introduced as of February 2014.  It renames the A4 haplogroups.  In order to avoid confusion, I am utilizing the Build 15 nomenclature.  These are the haplogroup names currently in use by the vendors and utilized in academic papers.

Hap A tree

I am also utilizing the CRS version, not the RSRS version of mutations.  Again, these are the mutations referenced by academic papers and the version generally used among genealogists.

Family Tree DNA provides an easy reference chart of which mutations are haplogroup defining.  For haplogroup A4, we find the following progression.

A4 T16362C
A4a G1442A
A4a1 G9713A, T16249C
A4a1a T4928C

This means that everyone who falls in haplogroup A4 carries this specific mutation at location 16362.  The original value at that location was a T and in haplogroup A, that T has mutated to a C.  This defines haplogroup A4.  So, if you don’t have this mutation, you definitely aren’t in haplogroup A4.  Everyone in haplogroup A4 carries this mutation (unless you’ve had a back mutation, a very rare occurrence.)

This is actually a wonderful turn of events, because it means that the defining mutation for A4 is in the HVR1 region, which further means that regardless of how the haplogroup A individual is classified, I can tell with a quick glance if they are A4 or not.

In addition, subgroups are defined by other mutations as well, shown above.  For example, haplogroup A4a carries the A4 mutation of T16362C plus the additional mutation of G1442A that defines subclade A4a.

Full sequence testing showed that there was actually quite a variety of subhaplogroups in the project participants.

What Did We Find?

In the haplogroup A4 project, we now have 55 participants who fell into 11 different haplogroups when full sequence tested.

A4 project distribution crop

I have removed all haplogroup A2 individuals from further discussion, as we already know A2 is Native.  We have established a haplogroup A2 project for them, as well.

A4b

We found two haplogroup A4b individuals.  The most distant known ancestor of one is found in Tennessee, but the most distant ancestor of the other is found in England.  These two individuals have 19 HVR1 matches, of which many are to other A4b individuals.  There is no evidence of Native American ancestry in this group.

A4-A200G

This unusual haplogroup name indicates that this is a subgroup of haplogroup A4, defined by a mutation at location 200 that has changed from A to G.  The new subgroup is waiting to be named.  So eventually A4-A200G will be replaced with something like A4z, just as an example.

This individual is from Asia, so this haplogroup is not Native.

A10

One individual, upon full sequence testing, was found to carry haplogroup A10, which is not a subgroup of A4.  This is quite interesting, because the most distant ancestor is Catherine Pillard, originally believe to be one of the “Kings Daughters,” meaning French.  This article explains the situation and the question at hand.

All five of her full sequence matches are either to other descendants of Catherine Pillard, or designated as French Canadian.

One of this woman’s ten HVR2 matches shows her ancestor, Annenghton Annenghto, as born at the Ossosane Mission, Huronia, La Rochelle, Ontario, Canada and died in 1657 in Canada.  If this is correct and can be confirmed, haplogroup A10 could be Native, not French.  Her daughter, Marie Catherine Platt has a baptismal record dated March 30, 1651, was also born at the mission, and is believe to be Huron.

This article more fully explains the research and documents relevant to Catherine Pillard’s ancestry.

Based on these several articles, it seems that an assumption had originally been made that because the individual fell into haplogroup A, and haplogroup A was Asian and Native, that this individual would be Native as well.

This determination was made in 2007, based on only the HVR1 and HVR2 regions of the mitochondrial DNA, and on the fact that the DNA results fell within haplogroup A, as documented here.  The HVR1 and HVR2 regions do not include the haplogroup defining mutations for haplogroup A10, so until full sequence testing became available, this sequence could not be defined as A10.  The conclusion that haplogroup A equated to Native American was not a scientific certainty, only one of multiple possibilities, and may have been premature.

I contacted several French-Canadian scholars regarding the documents for Catherine Pillard and there is no consensus as to whether she was Native or European, based on the available documentation.  In fact, there are two very distinct and very different opinions.  There is also a possibility that there are two women whose records are confused or intermixed.

So it seems that both Catherine Pillard’s DNA and supporting documents are ambiguous at this point in time.

One of the ways we determine mitochondrial ethnicity in situations like this is “guilt by genetic association,” to quote Bennett Greenspan.  In other words, if you have exactly the same DNA and mutations as several other people, and they and their ancestors are proven to live in Scotland, or Paris, or Greece, you’re not Native American.  This works the other way too, as we’ll see in Kit 11 of the haplogroup A4 outliers group.

Looking at other resources, MtDNA Community shows two references to A10, one submitted from Family Tree DNA and one from the below referenced article.

Haplogroup A10 has one reference in Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia by Malyarchuk et al, (201 Molecular Biological Evolution) but has since been reassigned as haplogroup A8, as follows:

However, some of the singular haplotypes appear to be informative for further development of mtDNA classification. Sample 23_Tm could be assigned to A10 according to nomenclature suggested by van Oven and Kayser (2009). However, phylogenetic analysis of complete mtDNAs (fig. 1) reveals that this sample belongs to haplogroup A8, which is defined now by transition at np 64 and consists of two related groups of lineages—A8a, with control region motif 146-16242 (previously defined as A8 by Derenko et al. [2007]), and A8b, with motif 16227C-16230 (supplementary table S3, Supplementary Material online). Analysis of HVS I and II sequences in populations indicates that transition at np 64 appears to be a reliable marker of haplogroup A8 (supplementary table S3, Supplementary Material online). The only exception, the probable back mutations at nps 64 and 146, has been described in Koryak haplotype EU482363 by Volodko et al. (2008). Therefore, parallel transitions at np 64 define not only Native American clusters of haplogroup A2, that is, its node A2c’d’e’f’g’h’i’j’k’n’p (Achilli et al. 2008; van Oven and Kayser 2009), but also northern Eurasian haplogroup A8. Both A8 and subhaplogroups are spread at relatively low frequencies in populations of central and western Siberia and in the Volga-Ural region. A8a is present even in Transylvania at frequency of 1.1% among Romanians, thus indicating that the presence of such mtDNA lineages in Europe may be mostly a consequence of medieval migrations of nomadic tribes from Siberia and the Volga-Ural region to Central Europe (Malyarchuk et al. 2006; Malyarchuk, Derenko, et al. 2008).

On Phylotree build 15, A10 is defined as T5393C, C7468T, C9948A, C10094T A16227c, T16311C! and the submissions are noted as the Malyarchuk 2010b paper noting it as “A8b”and a Family Tree DNA submission.

At this point, haplogroup A10 is indeterminate and could be either Native or European.  We won’t know until we have confirmed test results combined with confirmed genealogy or location for another A10 individual.

A4

Haplogroup A4 itself is not the haplogroup I originally suspected was Native.  When this project first began, we had few A4s, and I suspected that they would become A4a1 when full sequence tested.  I expected A4a1 would be Native American.

Subsequent testing has shown that haplogroup A4 very clearly falls into major subgroups, as defined by different mutations.

A4 European

The European A4 group is comprised of three participants.  Of those three, two are matches to each other and the third is quite distant with no matches.  I suspect that we are dealing with two different European sub-haplogroups of A4.

Two project participants, one from Romania and one from Poland match each other and both match one additional individual from Hungary who is not a project member.  This group is eastern European.

The Romanian and Polish kits that match each other both carry mutations at locations 16182C, 16183C, 16189C, 150T, 204C, 3213G, 3801C and 14025C.  The third person that they match, who is not a project member, from Hungary, matches one of those kits exactly, so that gives us three kits carrying this same series of mutations.  These mutations do not match any other individuals carrying haplogroup A4.  This group appears to be Jewish, as all three of the participants are of the Jewish faith.

This leaves the third project participant from Poland who does not have any matches today, within or outside of the project.  This participant is clearly a different subclade of A4.  They match none of the defining markers of the group above. They do have unique mutations at locations not found in other A4 participants within the project.

This provides us with the following European haplogroup A4 results:

  • Eastern European –Jewish – 2 participants plus one exact full sequence match outside of project
  • Eastern European – does not match group above, has no matches today, five unique mutations including 4 in the coding region.

A4 Chinese

This A4 participant is from China.

This sequence is actually very interesting because of its relative age.  This individual has 109 matches at the HVR1 level.  This means, of course, that they are exact matches.  They match many people in varying locations such as people with Spanish surnames, participants from Michigan, Mexico and Asia which include people with extended haplogroups of A, A4 and A4-A200G haplogroup designations.

At first this appears confusing, until you realize two things.  First, the participant doesn’t continue those matches at the HVR2 level and second, this means that all of those people still carry the Haplogroup “A4 signature” HVR1 mitochondrial DNA, exactly.

This means that those matches stretch back in time thousands of years, until before the divergence of Native Americans and Asians, so at least 12,000 years, if not longer.  People who have incurred mutations in the HVR1 region don’t match, but those who have not, and today, there are only 109 in the Family Tree DNA data base, still match each other – reaching back to their common Asian ancestor many millennia ago.

This individual has developed two mutations in the HVR2 region at locations 156G and 159G.  The participant also does not carry the haplogroup A defining mutation at location 263G which means either that 263G actually defines a subgroup, or this participant has had a back mutation to the original state at this location.  This individual did not test at the full sequence level.

A4 Americas

This leaves a total of 14 haplogroup A4 individuals within the project.

In order to show a comparison, I have removed all private mutations where none of this group matches each other.  I have also removed the haplogroup defining mutations as well as 16519C and all insertions and deletions since those areas are considered to be unstable.  In other words, what I’m looking for are groups of mutations where this group matches each other and no one else.  These are very likely sub-haplogroup defining mutations.

In addition to all private mutations, deleted columns include: 16223, 16332, 16290, 16319, 16362, 16519, 73, 152, 235, 263, 309.1, 309.2, 315.1, 522, 523, 663, 750, 1438, 1736, 2706, 4248, 4769, 4824, 7028, 8794, 8860, 11719, 12705, 14766, 15326.

I then rearranged the remaining columns and color coded groups.  You can click on the chart to enlarge.

A4 mutations

Note: na means not available, indicating that the participant did not test at that level.  An x in the cell indicates that the mutation indicated in that column was present.

The purple and apricot groupings show different clusters of matches.  The light purple is the largest group, and within that group, we find both a dark purple group and an apricot group.  However, not everyone fits within the groups.

A4 – Virginia

The first thing that is immediately evident is that the first kit, Kit 1, is not a member of this purple grouping.  This person has three full sequence matches outside of the project, one whose ancestor was born in Texas.  This individual has three unique full sequence mutations.  This grouping may be Native, but lacks proof.

Additional genealogical research might establish a confirmed Native American connection. If Kit 1 is Native, this line diverged from this larger A4 group long ago, before any of these purple or apricot mutations developed.

This participant’s ancestor traces to Virginia.  Regardless of whether this haplotype is Native or not, it is most likely a sub-haplogroup of A4.

A4 – Colombia

The next least likely match is Kit 2.  This individual shares two of the common HVR2 markers, 146 and 153, but did not test at the full sequence level.  Given what I’m seeing here, I suspect that 146 might be a sub-haplogroup defining mutation for this light purple group.  In addition, 8027 and 12007 might be as well.  That includes everyone (who has tested at the relevant levels) except for Kit 1 and Kit 11.

Haplogroup A4 from Colombia is most likely Native.  Few people are in the public data bases are from Colombia.  One would expect several mutations to have occurred as groups migrated.  At the HVR1 level, this individual has 18 matches, most of which have Spanish surnames.  This participant has no HVR2 matches.

A4 – California Group

The next group is the apricot group which I’ve nicknamed the California group.  Both of these participants, Kit 3 and Kit 4, find their ancestors in either southern California or Baja California, into Mexico.  Finding these haplogroups among the Mexican, Central and South American populations is an indicator of Native heritage, as between 85% and 90% of Mexicans carry Native American matrilineal lineage.

These participants also match a third individual who is not a project member whose ancestor is also found in Baja California.  This group’s defining mutations are likely 16209C, 5054T, 7604A, 7861C and 12513G.  Fortunately, these will be relatively easy to discern due to the HVR1 mutation at 16209.

A4 – Puerto Rico Group

The dark purple group, Kits 5-9, is the Puerto Rican group even though it includes one kit from Mexico and one from Cuba.  The Mexican kit, Kit 5, in teal, is only a partial match.  Kits 6-9 match each other plus several additional people not in the project whose most distant ancestors are found in Puerto Rico as well.  This group has several defining markers including 16083T, 16256T, 214G, 2836T, 6632C and possibly 16126C, although Kit 5 carries 16126C while Kit 9 does not.

The Puerto Rico DNA project has another 18 individuals classified as haplogroup A or A4 and they all carry 16083T, 16256T and those who have taken the HVR2 test (10) carry 214G as well.  Only one carries 16126C, so that would not be a defining mutation for this major group, but could be for a subgroup of the Puerto Rico group.

Given the history of Puerto Rico, this is probably a signature of the Taino or Carib people.

In 2003, 27 Taino DNA sequences were obtained from pre-Columbian remains and reported in this paper by Laluezo-Fox et al.  This was very early in DNA processing, especially of remains, and they were found to carry only haplogroups C and D.  These remains were not from the islands, but were from the La Caleta site in the Dominican Republic.

The Taino today are considered to be culturally extinct due to disease, enslavement and harsh treatment by the Spanish, but they maintained their presence into the 20th century and were a significant factor in the population of the West Indies, including Puerto Rico.  Their descendants would be expected to be found within the population today.  The Taino were the primary tribe found on Puerto Rico and were an Arawak indigenous people who arrived from South America.  The Taino were in conflict with the Caribs from the southern Lesser Antilles.

Carib women were sometimes taken as captives by the Taino.  The Caribs originated in South American near the Orinoco River and settled on the islands around 1200AD, after the Taino were already settled in the region.

It’s therefore possible that haplogroup A4 is a Carib signature.  In 2001, Martinez-Cruzaco et al published a paper titled Mitochondrial DNA analysis reveals substantial Native American ancestry in Puerto Rico in which they found that haplogroup A was absent in the Taino by testing the Yanomama whose territory was close to the Taino.  If this is the case, then haplogroup A must have arisen and admixed from another native culture, or, conversely, the Yanomama tested were an incomplete sampling or simply not adequately representative as a proxy for the Taino.  However, if haplogroup A4 is not found in the Taino, the most likely candidate would be the Caribs, assuming that the Martinez-Cruzaco paper conclusions are accurate, or the even older Ortoiroid, Saladoid culture or Arawak tribe who are believed to have assimilated with or were actually another name for the Taino.

A4 – Mexican/Puerto Rican Mutation 16126 Group

This group, Kits 5-8, is defined by mutation 16126C.  It’s quite interesting, because it includes Kit 5 that does not match the rest of the Puerto Rican markers.  Only some Puerto Rican samples carry 16126C.  Kits 5-8 in this the A4 project do carry this mutation, but 18 of the haplogroup A kits in the Puerto Rican project which do carry the dark purple signature mutations do not carry this mutation.  This mutation may be a later mutation in some of the people who settled on Puerto Rico and some of which remained on the mainland.  The most distant ancestor of Kit 5 is from Tangancícuaro de Arista, Michoacan de Ocampo, shown below.

Tangancícuaro de Arista, Michoacan de Ocampo

Kit 5 has five full sequence matches, all of which carry Spanish surnames.

A4 Outliers

This leaves only kits 10-14.  These kits don’t match each other but do fall, at least on some markers, within the light purple group.

Kit 12 is from Costa Rica and has no matches at the HVR1 level because of a mutation at location 16086C, but has not tested at the HVR2 or full sequence levels.   They might fit into a group easily with additional testing.

Kit 13 is from Mexico and has only two HVR1 matches who have not tested at a higher level.  This kit, like Kit 5, does not carry mutation 16111T which could indicate an early split from the main group or a back mutation.

Kit 10 is from Mexico, has 17 HVR1 matches, some of which indicate that their ancestors are from Texas and Mexico.  Kit 10 has no HVR2 or full sequence matches.

Kit 11 is from Honduras and interestingly, has 158 HVR1 matches to a wide variety of people including those from Costa Rica, Mexico, South Carolina, Oklahoma, a descendant of a Crow Tribal member, North Dakota, Guatemaula, the Cree/Chippewa, a descendant of an Arikawa and one person who indicated their oldest ancestor is from Aragon, in Spain.  This means that all of these people carry the light purple group defining 16111T mutation.

Kit 14 is from Honduras and has only two matches at the HVR1 level, one which is from El Salvador.  Both of the matches have only tested to the HVR1 level.  Kit 14 does carry the 16111T mutation as well as most of the other light purple mutations, but is missing mutation 164C which is present in the entire rest of the light purple group.  This could signify a back mutation.  In addition, Kit 14 matches on marker 16189T with kit 6 from Puerto Rico and on 16311C with Kit 1 from Virginia, but with no other participants on these markers.

These people and their matches and mutations could well represent additional subgroups of haplogroup A4

A4a1

This leaves us with the A4a1 subgroup, which is where I started 18 months ago.

The haplogroup A4a1 group is very interesting, albeit not for the reasons I initially anticipated.  Again, the same columns were deleted as noted in A4, above, leaving only columns (mutations) unique to this group.  As with the other subgroups, these are likely sub-haplogroup defining mutations.

A4a1 mutations

Note:  na means not available, indicating that the participant did not test at that level

A4a1 Mexico

Kit 15, the pink individual did not take the HVR2 or full sequence test, but does not match any other participants at the HVR1 level.  This person’s maternal line is from Mexico.  Kit 15 could be Native and with additional testing could be a different subclade.

A4a1 European Group

The three yellow rows are positively confirmed from Europe.  Kits 1 and 2 do not match each other nor any other participants.

Kit 3 however, matches Kits 4-14.

Kits 3-14, all match each other at the HVR1 level.  One individual has not taken the HVR2 test and one has not taken the full sequence test, but otherwise, they also all match at the HVR2 and full sequence level.  Note that Kit 3 is also in the confirmed European group based on two sets of census documentation.

Within the group of participants comprising kits 3-14, several have oral history and some have circumstantial evidence suggesting Native ancestry, but not one has any documented proof, either in terms of their own ancestors being proven Native, their ancestor’s family members being proven Native, or the people they match being proven as Native.

Kit 3 states that their ancestor was born in England in 1838.  I verified that the 1880 census for New York City confirms that birth location of their ancestor.  The daughter’s mother’s birthplace is also noted to be England in the 1900 census.

Therefore, based on the fact that Kit 3 is proven to be English, according to the census, and this kit matches the rest of the group, Kits 4-14, at the HVR1, HVR2 and full sequence levels, it is very unlikely that this group is Native.

Kit 15, who does not match this group, but who has not tested above the HVR1 level, is the only likely exception and may be Native.  Full sequence testing would likely suggest a different or expanded subgroup of haplogroup A4a1.

Further documentation could add substantially to this information, but at this point, none has been forthcoming.

In Summary – The Layers of Haplogroup A4

Full sequence testing was absolutely essential in sorting through the various participant results.  As demonstrated, the full sequence results were not always what was expected.

When full sequence tested, one participant was determined to be Haplogroup A10, which is not a subgroup of A4.  Haplogroup A10 is indeterminate and could be Native but could also be European.  Additional A10 results will hopefully be forthcoming in the future which will resolve this question.

None of the haplogroup A4a1 participants provide any direct evidence of Native ancestry, with the possible exception of one A4a1 kit whose matrilineal ancestors are from Mexico and who has not tested at a higher level.  Three A4a1 participants have confirmed European ancestry and one of those participants matches most of the others.  A4a1, with possibly one exception, appears to be European.  The A4a1 participant whose ancestors are from Mexico does not match any of the other participants and could eventually be classified as a subhaplogroup.

Haplogroup A4 itself appears to be divided into multiple subgroups, several of which may eventually form new sub-haplogroups based on their clusters of mutations.

There is clearly a European and a Chinese A4 grouping.  The European group is broken into two subgroups, one of which is Jewish.

In the Americas, there are several A4 subgroups, including:

  • Virginia – indeterminate whether Native
  • Colombia – likely Native
  • California – likely Native
  • Puerto Rico (2 groups) – very likely Native

There are also 5 outliers who don’t match others within the group, hailing from:

  • Costa Rica – likely Native
  • Mexico (2) – likely Native
  • Honduras – matching several confirmed Native people in multiple tribes at the HVR1 level
  • Honduras – likely Native

A4 grid v2

Note: Undet, short for undetermined, means that the results could be Native or European but available evidence has not been able to differentiate between those alternatives today.

*A4 needs to be further divided into additional haplogroup subgroups.

Dedication

Obviously, a study of this complexity couldn’t be done without the many resources I’ve mentioned and probably some that I’ve forgotten.  I thank everyone who contributed and continues to contribute.  I also want to thank the people who contributed to the funding for participant testing.  We could not have done this without your contributions in combination with the discounts offered by Family Tree DNA.

However, the most important resource is the participants and their willingness to share – their DNA, their research and their family stories.  During this project, two of our participants have passed away.  I would like to take this opportunity to dedicate this research to them, and I hope they know that their DNA keeps on giving.  This is their legacy.

Acknowledgements

I would like to thank Ian Logan for his assistance with haplogroup designation, Family Tree DNA for testing support and discounts, my project co-administrator, Marie Rundquist, Bennett Greenspan, Dr. Michelle Fiedler and Dr. David Pike for paper review.

Naia – Oldest Native American Facial Reconstruction

Naia, named affectionately for the ancient water nymphs of Greek mythology is actually the face of the oldest Native American.  At least, the oldest one whose skull is complete and whose face we can reconstruct.  Naia was a teenager when she died between 12,000 and 13,000 years ago by falling into a cave in the Yukatan. In 2007, her remains were found in a submerged cavern, and history was about to be made, after waiting some 12,000+ years.

A scientific team would study her remains, sample her DNA and reconstruct her face.  The January 2015 issue of National Geographic magazine has an absolutely wonderful article and the online magazine version does as well.

nat geo naia

Start by reading the wonderful story, of course, but don’t miss the video about how they recovered the remains and the subsequent analysis.  There is also a photo gallery and several other links, across the top of the article – all worth seeing.

One of the unexpected findings was how different Naia looks than what we would have expected based on what Native people look like today.  She had a more African and Polynesian facial structure than later Native people, and she was much smaller.  Be sure to check out Nat Geo’s “clues to an ancient mystery.”

Naia’s mitochondrial DNA confirms that indeed, her matrilineal line originated in Asia, a common base haplogroup found in Native Americans todayhaplogroup D1.

The accompanying academic paper was published in the May 2014 issue of the Journal Science, titled “Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans” by James Chatters et al.

The article is behind a paywall, but the abstract is as follows:

Abstract:

Because of differences in craniofacial morphology and dentition between the earliest American skeletons and modern Native Americans, separate origins have been postulated for them, despite genetic evidence to the contrary. We describe a near-complete human skeleton with an intact cranium and preserved DNA found with extinct fauna in a submerged cave on Mexico’s Yucatan Peninsula. This skeleton dates to between 13,000 and 12,000 calendar years ago and has Paleoamerican craniofacial characteristics and a Beringian-derived mitochondrial DNA (mtDNA) haplogroup (D1). Thus, the differences between Paleoamericans and Native Americans probably resulted from in situ evolution rather than separate ancestry.

A second article, published in Science, also in May 2014, “Bones from a Watery “Black Hole” Confirm First American Origins” by Michael Balter discuss the fact that the earlier skeletons of Native people often don’t resemble contemporary Native people.

Also behind a paywall, the summary states:

Summary:

Most researchers agree that the earliest Americans came over from Asia via the Bering Strait between Siberia and Alaska, beginning at least 15,000 years ago. But many have long puzzled over findings that some of the earliest known skeletons—with long skulls and prominent foreheads—do not resemble today’s Native Americans, who tend to have rounder skulls and flatter faces. Some have even suggested that at least two migrations into the Americas were involved, one earlier and one later. But the discovery of a nearly 13,000-year-old teenage girl in an underwater cave in Mexico’s Yucatán Peninsula argues against that hypothesis. The girl had the skull features of older skeletons, but the genetic profile of some of today’s Native Americans—suggesting that the anatomical differences were the result of evolutionary changes after the first Americans left Asia, rather than evidence of separate ancestry.

Of course, the fact that Naia was found so early in such a southern location has spurred continuing debate about migration waves and paths, land versus water arrivals.  Those questions won’t be resolved until we have a lot more data to work with – but they do make for lively debate.  Dienekes wrote a short article about this topic when the paper was first released, and the comments make for more interesting reading than the article.

Cultural Footprints

I was recently corresponding with a descendant of Valentine Collins, one of the Melungeon families of mixed race found in and nearby Hawkins County, Tennessee in the 1800s.

Here’s what he had to say.

When I first started looking into my Collins’ family history, I realized very early this was going to be a real adventure. What I did was set up a system to look at different aspects of their lives/history. I call it ‘cultural footprints’. I have those foot prints broken down as:

  • Religion
  • The Table (food)
  • Music
  • Language

Most of the data I’ve mined are based on these four Cultural Footprints. But I would have to say Genetic Genealogy provided the biggest breakthroughs, the best tool by far.

Well, obviously I liked his commentary about genetic genealogy, which gives us the ability to connect and to prove, or disprove, connections.  But as I looked at his list, I thought about my own ancestors.  Those of you who follow my blog regularly know that I love to learn about the history during the time that my ancestors were living – what happened to and near them and how it affected them.  But his commentary made me wonder what I’ve been missing.

As I think back, one of the biggest and most useful clues to one of my ancestral lines was an accidental comment made by my mother about her grandmother. She mentioned, in passing, “that little white hat that she always wore.”  I almost didn’t say anything, but then I thought, “little white hat, that’s odd.”  So I asked and my mother said something like, “you know, those religious hats.”  I asked if she meant Amish or Mennonite, given the context of where they lived and she said, “yes, a hat like that.”  Then, when questioned further, it turns out that the family didn’t drive, even though cars were certainly utilized by then.  My mother never thought about it.  Turns out that the family was actually Brethren, also one of the pietist faiths similar to Amish and Mennonite, but that hint sent me in the right direction.

How could my mother have been unaware of something that important, well, important to me anyway?  Easy.  It was, ahem, not discussed in the family.  You see, it was somewhat of a scandal.

My mother’s father had married outside the Brethren religion, so was rather ostracized from the family for his choice to marry a Lutheran. Then the family became, horror of horrors, Methodist.  So, I would add clothing to my friend’s list of cultural footprints as well.  Sometimes, like in my case, dress will lead you to religion.  In the photo below, my mother’s grandmother is the female in the middle back row.  If you look carefully, you can see that both she and her mother are wearing a prayer cap.

John David Miller Photo

I know the religion of many of my ancestors. Whatever their religious choice, it was extremely important to many.  I have 1709ers, Acadians, Brethren, Mennonites, Huguenots, fire and brimstone Baptists, Methodists and Presbyterians in my family line.  I always try to find their church and the church records if possible.  Some are quite interesting, like Joseph Bolton who was twice censured from the Baptist church in Hancock County, Tennessee.  Many of my ancestors made their life choices based on their faith.  In particular, the Huguenots, 1709ers, Brethren and Mennonites suffered greatly for their beliefs.  Conversely, some of my ancestors appear to never have set foot in a church.  I refer to them as the “free thinkers.”

Well, in one case, my ancestor was a bootlegger in the mountains of Kentucky. What the hey…every family has to have some color, and he was definitely colorful….and free thinking.

Most of us are a mixture of people, cultures and places. All of them are in us.  Their lives, culture, choices and  yes, their DNA, make us who we are.  If you have any doubt, just look at your autosomal ethnicity predictions.

Language of course is important, but more personally, local dialects that our ancestors may have spoken. In the US, every part of the country has their own way of speaking.

Here’s a YouTube video of a Louisiana Cajun accent. Many Acadians settled in that region after being forcibly removed from Nova Scotia in 1755.

Acadian-Cajun language, music and early homes in Louisiana

Here’s a wonderful video of Appalachian English. In my family, this is known as “hillbilly” and that is not considered a bad thing to be:)  In fact, we truthfully, all love Jeff Foxworthy, well, because he’s one of us.  I’m just sure if we could get him to DNA test, that we’d be related!

There are regional and cultural differences too.

Here’s a video about Lumbee English. The Lumbee are a Native American tribe found in North Carolina near the border with South Carolina.

Going further east in North Carolina, the Outer Banks has a very distinctive dialect.

What did your ancestor’s speech sound like?   What would it have sounded like in that time and place?

That, of course, leads to music. Sometimes music is the combination of speech and religion, with musical instruments added.  Sometimes it has nothing to do with religion, but moves us spiritually just the same.  Music is the voice of the soul.

Here’s Amazing Grace on the bagpipes. If you can get through this dry-eyed, well, then you’re not Scottish…just saying.  This connects me to my Scottish ancestors.  It was played at both my mother’s and my brother’s funerals.  Needless to say, I can’t get through it dry eyed!

Amazing Grace isn’t limited to bagpipes or musical instruments. The old “hardshell” Baptists didn’t utilize musical instruments, and still don’t, in their churches.  Listen to their beautiful voices, and the beautiful landscape of Kentucky.  This is the land, voices and religion of some of my people.

A hauntingly and sadly beautiful Negro Spiritual. Kleenex box warning.  This, too, is the music of my family.

Yeha – Noha – a Native American song by Sacred Spirit. One of my favorite music pieces.

Bluegrass gospel – Swing Low Sweet Chariot. Bet you can’t keep your foot from tapping!!!

Appalachian fiddle music. Speaks directly to my heart.  And my hands.  I just have to clap my hands.

Acadian music. This would be very familiar to my Acadian ancestors.

At this link, you can hear samples of Acadian folk songs by scrolling down and clicking on the track listing.

Moving a little closer in time. This is the official state song of Tennessee – one of my all-time favorites.  I can’t tell you how many times I’ve danced to this.  This just says “home” to me and I can feel my roots.

What kind of music did your ancestors enjoy? Did they play any musical instruments?  Can you find the music of the time and place in which they lived?  YouTube has a wide variety and the videos are an added benefit, bringing the reality of the life of our distant ancestors a little closer.

Now that you know what fed their souls, let’s look at what fed their bodies.  Along with regional speech and musical differences, the diet of our ancestors was unique and often quite different from ours of today.

On the Cumberland Gap Yahoo group, we often exchange and discuss regional recipes, especially around the holidays. Same on the Acadian rootsweb group.  Although this year we’ve been talking about deep fried turkeys.  Maybe in another couple hundred years that will be considered representative of our time.  Hopefully it’s not McDonalds!

The Smithsonian sponsors a website about Appalachian foods.  Let me share with you what I remember about my childhood.  We made do with what we had, whatever that was.  Some things were staples.  Like biscuits, with butter, or honey, or jam, or apple butter…whatever you had on hand that was in season.

biscuits

Chicken fried in bacon grease was for Sunday, or company, which usually came on Sunday.

fried chicken

We wasted nothing, ever, because you never knew when you might not have enough to eat. So, we ate leftovers until they were gone and we canned. Did we ever can.  Lord, we canned everything.  Mason jars in huge boiling kettles in the hottest part of summer.  Let’s just say that is not my favorite memory of growing up.  But green beans at Christmas time were just wonderful, and you couldn’t have those without canning in the August heat.

cans

Different areas have become known for certain types of cuisine. In North Carolina, they are known for their wood-fired BBQ.  In western North Carolina, they use a red, slightly sweet, tomato based BBQ sauce, but in eastern NC, they use a vinegar based BBQ sauce.  Want to start a fight?  Just say that the other one is better on the wrong side of the state:)

BBQ pit

Creole cuisine is found in the south, near the Mississippi Delta region and is from a combination of French, Spanish and African heritage.

creole

Jambalaya is a Louisiana adaptation of Spanish paella.

OLYMPUS DIGITAL CAMERA

Soul food is the term for the foods emanating from slavery.  When I looked up soul food on wiki, I found the foods my family ate every day.  When I think of food that we didn’t eat, but that my African American cousins did eat, I think of chitlins.  Yes, I know I didn’t spell that correctly, but that’s how we spelled it. And the chitlins we had were flowered and fried too, not boiled.  Maybe that is a regional difference or an adaptation.

chitterlings

Another “out of Africa” food is sorghum, used to make a sweet substance similar to molasses, used on biscuits in our family. Sorghum is an African plant, often called Guinea Corn, and arrived with slaves in colonial days.

sorghum

Native American cuisine varies by where the tribe lived, and originally, they lived across all of North and South America. Originally, the Native people had the three sisters, corn, squash and beans.  Hominy is Native, as is grits, a southern staple today.  I’m drooling now…

grits

Today, however, one of the signature Native American dishes is FryBread. Fried and seriously unhealthy, the lines at powwows are longer for frybread and a derivative, Indian Tacos, than anything else.

frybread

In many places, the settlers, slaves and Native people assimilated and the food their descendants ate reflected all three cultures, like Brunswick Stew.  Even Brunswick Stew varies widely by location as do the origin stories.  Many foods seems to have evolved in areas occupied by European settlers, Native people and slaves, to reflect ingredients from all three groups.

Brunswick stew

That’s the case in my family, on my father’s side. We didn’t know any differently, or where that particular type of food originated.  However, sometimes by looking at the foods families ate, we can tell something of their origins.

In marginalized populations, and by that, in the US I mean mixed race or descendants of enslaved people, it’s often very difficult to use traditional genealogical records because they didn’t own land or leave other records. Many of them spent a lot of time trying to make themselves transparent and didn’t want to attract any attention.

Often, it’s the DNA that unlocks the doors to their heritage, and after making that discovery, we can then look the cultural footprints they left for us to follow.

I’m starving. I’m going to eat something unhealthy and listen to some wonderful music!  How about grits with butter and Indian tacos for lunch along with powwow music?  Oh yeahhhhhh…….

Anzick Matching Update

In response to my article about haplogroup C3*, a regular contributor, Armando, left the following comment:

“Roberta, there was a problem with the way Felix was processing files and he had to change the Clovis Anzick file three times at Gedmatch. The last one is kit F999919 uploaded October 8, 2014. You can see his post on that at http://www.fc.id.au/2014/10/new-clovis-anzick-1-kit-in-gedmatch.html

If you do one-to-many matching on Clovis Anzick F999919 at Gedmatch there is not a single person that reports to have mtDNA M. Your extracts for Clovis Anzick are from September 24, 2014 and therefore are based on a bad file which was kit F999912. The older bad kits F999912 and F999913 have been deleted from Gedmatch. Felix mentions the updates at http://www.fc.id.au/2014/09/clovis-anzick-1-dna-match-living-people.html

This comment came in on Christmas Eve, and I replied that I would look into this after the holidays.

Given that it was Christmas Eve, I certainly wasn’t going to bother anyone over the holidays with questions, so I quickly ran a one to many compare for the current Anzick kit, F999919, and found at 5cM and below that there were 4 haplogroup M matches.

ancient match

As I did before, I sent emails to those who provided e-mail addresses asking about their matrilineal heritage.

The first thing I wanted to do, of course, was to check with Felix.  I knew that Felix had updated the kits, but my understanding was that he added SNPs from the various companies to create a single file with all the SNPs from all three testing companies, not that any file was bad, so to speak.

I asked Felix if the original files had problems or were bad, and here is his response.

“I can assure you none of the earlier/older versions uploaded to GEDmatch (kit# F999912 and F999913) of Clovis Anzick was bad.

  • F999912 – Contains only FTDNA SNPs extracted from VCF file provided by authors.
  • F999913 – Contains all SNPs used by DNA testing companies extracted from VCF file provided by authors.
  • F999919 – Contains all SNPs used by DNA testing companies processed from BAM file provided by authors.

Source files: 

I removed the earlier versions not because they are bad but only to avoid redundancy for the same sample kit, and processed BAM file (which is a 41 GB file) contains significantly more SNPs compared to VCF source. Because the latest file has more SNPs, it is possible that some missing SNPs in earlier uploads (which was assumed as matching in GEDmatch) may actually have mismatches in new file and thus, could fall below the thresholds or could break the previously matching segment.

The difference in matches between F999912 and F999919 kit for Clovis Anzick is similar to difference in matches between a 23andMe V4 kit and V3 kit for the same person.”

After thinking about this some, it occurred to me that perhaps GedMatch was treating different files from different vendors differently in their matching and sorting routines. That might account for a difference in matching. So, I asked John Olson at GedMatch.

John’s reply is as follows:

“At one time, I did use different thresholds depending on which vendor was being compared to which other vendor.  That was a holdover from when FTDNA had Affymetrix kits that were producing somewhat different results than Illumina kits.  I have since changed the one-to-many thresholds to 5cM/500 SNPs for all comparisons.  The one-to-one thresholds default to 7cm/700 SNPs.  I believe I made that change about a year ago, but it may have been longer.  At any rate, they are all the same now, and I’m pretty sure they are all the same since Felix has introduced the F9999xx kits.  Another change made within the past year is to treat A=T and C=G for all comparisons.  This was done to get rid of single SNP errors in the few cases where one vendor was reporting a different strand than another vendor.  In a few cases, I have observed that this “heals” some single-SNP breaks in otherwise continuous matching segments.

It is possible that older one-to-many comparisons may have been made under slightly different conditions than newer ones.  Older comparisons made with a 3cm/300 SNP threshold may show larger total segment match if they contained many very small matching segments.  This usually happens with endogamous populations.  Comparisons affected by the change to A=T, C=G may show a larger matching segment where 2 smaller matching segments existed previously.

Another issue to be aware of when comparing artificial kits is that there may be large gaps between the defined SNPs.  So, even if there is a gap of a million SNPs, the GEDmatch comparison algorithm will treat them as contiguous.  This works OK when everybody is using the same SNPs, but when the list of SNPs is significantly different, it may produce matches that are bogus.  This is particularly obvious when generating artificial kits that are missing large segments of data.  I have had to deal with this issue with phased kits and Lazarus kits by introducing the concept of a “hard break” that forces a break between smaller matching segments.”

I wanted to know how the three files that Felix prepared compared relative to the matches they produced.  I originally ran several comparisons with each of the first two versions, kits F999912 and F999913, and I didn’t save all of the original files, but I do have at least one file saved from each version.  Therefore, I dropped all three sets of results (F999912, F999913 and F999919) into a spreadsheet to see how matching compared between the three Anzick file versions.

Keep in mind that the first file (F999912) contained just the FTDNA SNPs, while the second (F999913) and third (F999919) files contain the SNPs from all of the testing companies.  This could potentially make the participant files appear to have missing segments when the matching routine at GedMatch sees SNPs in the Anzick file not in the participant files.  However, this shouldn’t be much different than comparing a file from two different vendors except that the Anzick file has the SNPs from all three vendors combined.

The first file from 9-23 at the default threshold had 491 matches, but I subsequently lowered the threshold so I could see as many matches as possible.

GedMatch only shows you your closest 1500 matches, although I now know that as of 12-31-2014, there were a total of 3442 Anzick matches at the 5cM threshold.

The second file from 9-29, run at 6cM had more than 1500 matches.  I ran the third kit at default settings on December 27th and it has 720 matches.

One would expect that the second and third files would have the effect of including more matches from both 23andMe and Ancestry since all of the SNPs utilized by those companies are included (if they are available in the Anzick sample.)  We also have to remember that there are new files being uploaded from all three vendor sites on a daily basis, so the total available to match is also increasing.  Of the 721 kit matches to F999919, 31 were shades of green which indicate that they have been uploaded during the last 30 days, so we could probably presume that about double that number were uploaded (and match) in two months or triple in three months, so probably about 100 new kits.  Those kits would show in the match extraction for this month but not for the first month and possibly not for the second.  However, all the kits that matched the first month at the highest threshold should still be showing in the second and third month.  Let’s see if that holds true.

I dropped all three sets of data into a spreadsheet and colorized the rows.

ancient match 1

  • Blue = F999912, first extraction, 9-23-2014
  • Yellow = F999913, second extraction, 9-29-2014
  • Pink = F999919, third extraction, 12-27-2014

Then I counted the number of blue rows, which are the first extraction, that had matches to both yellow and pink, or only yellow, the second extraction, or only pink, the third (current) extraction, or no matches at all.

You can see that the green grouping shows that all three match each other.  The match between A003479 in both the second and third extraction could be because the kit was not present when the first extraction was done.

All 3 match 1st to 2nd Only 1st  to 3rd Only No Match
Percent First Extraction Matches to Other Extractions 54% 36% 5% 5%

By percent, this is how the matching between kits worked.  About half of the kits in the first extraction continued to match kits in both subsequent extractions.  Of the remaining half, three quarters of the balance matches the second extraction only and a few match just the third extraction or no extraction at all.  For the most part, there is no evident reason upon inspection why the kits would not match the second or third extraction, so the cause has to be a result of the additional SNPs or the matching routine or both.  This is not to imply that the results are problematic, just that they are different than I would have expected.

A very low percentage of kits matched only between the first and third extracts and the same percentage had no matches in either the second or third extraction.

I took a closer look at the kits with no matches at all.  All of them had relatively low threshold total cM and largest segment size.  The smallest total cM was 7.1 and the largest was 8.2.  The smallest segment was 7.1 and the largest segment was also 8.2.  All of these entries had the total cM equal to the largest cM.  It appears that these simply slipped below the match threshold, but that doesn’t appear to be the case because in the current (pink) extract, a total of 171 entries were at or below 8.2 total cM and 8.2 largest cM and several kits had the exact same cM as the kits that didn’t show up from the first (blue) extract as a match – so obviously something truly was different in the SNPs or how the matching was done.

Is there any correlation to the kits in the original extract that didn’t match any other extract in terms of which testing company the participants utilized?

One Ancestry kit (4%), 18 23andMe kits (64%), 7 Family Tree DNA kits (25%) and 2 FN kits (7%) didn’t match anyone.  But how many kits were in the original extract from the various companies?

Original Kit Matches Second KitMatches Current Kit Matches
Ancestry Kits (A) 26 (5%) 438 (29%) 199 (28%)
FTDNA Kits (F) 94 (19%) 295 (20%) 121 (17%)
Other F+ Kits* 15 (3%) 35 (2%) 15 (2%)
23andMe Kits (M) 354 (72%) 732 (49%) 382 (53%)

*FB, FN, FE, FV

The effect of the additional SNPs in the kits seems to have been to increase the Ancestry kit matches significantly.

It was interesting to see how the same person’s kit from different vendors compared as well.  In this random example, the Family Finder kit has a higher total cM and largest segment than the 23andMe v3 kit.

ancient match 2

Here’s a kit from one person at all three vendors, but the 23andMe kit is version 4, in which 23andMe significantly reduced the number of SNPs tested by about one third, from about 900,000 to about 600,000.

ancient match 3

I wondered if there is a difference in what is reported based on the threshold selected.  Now at first glance, one would think, “well of course there is a difference,” but the difference should be on the bottom end of the list.  In other words, the top matches should be the top matches at 7cM, 6cM, 5cM, etc.  The top matches at 7cM would still be the top at 6cM, just more smaller matches appended to the end of the match list – or that is what I would expect.

Let’s see if this holds true with the current file.

I ran the “one to many” option for the current Anzick kit, F999919, at seven different levels, on the same day, one right after the other, as follows:

  • 7cM, 700 SNPs
  • 6cM, 600 SNPs
  • 5cM, 500 SNPs
  • 4cM, 400 SNPs
  • 3cM, 300 SNPs
  • 2cM, 200 SNPs
  • 1cM, 100 SNPs

The first extract produced 719 records.  The rest were all over the 1500 threshold, so we only see the first 1500.  Normally, for genealogy the 1500 threshold would certainly be adequate, but for research, the threshold is frustrating.

To make this easier let me say that the extracts from 5cM down through 1cM were exactly the same, but the extracts at 7, 6 and 5cM, respectively, were not.

Discussions with John Olson at GedMatch shed some light on why the 5cM through 1cM extracts were exactly the same.

 “For the past year or so, the database has only stored matches down to 5 cM.”

I sure wish I had known that BEFORE I did all of those extracts.

I combined and color coded all 7 extractions into a spreadsheet.

Most of the grouping look like this where blue=7cm, pink=6cM, grn=5cM, purple=4cm, teal=3cm,apricot=2cm, yellow=1cm.  Nice rainbows.

ancient match 4

All of the matches from the 7cM extraction, with the exception of a few X matches at the end, some of which have no matches on chromosomes 1-22, are included in the 6cM and 5cM extractions, but after the first several records, they are not in the same position.  In other words, they are not the top 719, in the same order, in either the 5 or 6cM extraction, but the 5cM through 1cM extractions are identical.  Of course, now we know why the 5cM through 1cM matches are exact. From here forth in the article, I won’t mention the 4cM-1cM extracts because they are the same as the 5cM extract.

For example, looking at the kit in position 712, the last non-X match in the 7cM extract – you find this same kit at row 1140 in the 6cM extract and row 1489 in the 5cM extract.

The 6cM extract appears to have some issues.  I ran this twice with the same parameters to be sure there wasn’t an error in how it was set up, and the two runs were identical.

There are about 350 individuals who show up in the 6cM extract who should  show up in the 5cM extract as well, but who don’t show in the 5cM extract.  They are under the threshold for the 7cM extract, so that is correct, but why are these 350 individuals not appearing as matches at the 5cM threshold?

ancient match 5

The kits noted above are the largest non-matching total cM and largest cM that don’t show up in the 5cM extract.  The smallest matches are 6.1 and 6.1, respectively.

Checking the 5cM extract, below, there are files with smaller total cMs and a smaller largest segment that are showing as matches.

ancient match 6

However, looking at the kits with the smallest cMs at the 5cM level, the smallest total cMs is 6.9 and it is combined with the largest segment of 6.9 as well, so that is above the 6.8 and 6.8 shown above.  The smallest individual segment is 5.1 but the total cM for that individual is 10.1.  So obviously the matching threshold at GedMatch is some combination of both the total cM and the largest segment.  This is somewhat unexpected, but doesn’t seem to be a red flag, just how this system works.

So, where are we?

I am glad to have Felix confirm that the files weren’t “bad,” only truly “new and improved,” and that the matching between the various files is pretty much as expected – and from various tests run, everything pretty much looks kosher.  The newer files with all of the SNPs utilized by the companies seem to level the playing field, allowing Ancestry kits a better chance of matching.

Aside from my intense interest due to the Native American connection, this is also how I’ve been extracting potential Native American mitochondrial haplogroups from the Anzick matches, including haplogroup M, for my research notes.  M is potentially a Native American haplogroup, but is as yet unproven.  With haplogroup M showing up in these people who are often heavily Native, and often from Mexico, Central and South America where 80% of the mitochondrial population is believed to be of Native American heritage, it seems prudent to add them to my research notes for further research and possible proof in the future.  I contact individuals and ask about their matrilineal heritage.  If they don’t have Asian or genealogically proven heritage elsewhere, and their families emerge from the areas with high Native frequencies, I include them on the research list.

In the three days between the two extracts this past week, three of the four haplogroup M individuals were pushed below the match threshold and are no longer visible at the default level.  Yes, I have confirmed hat they are still there just not visible at the 1500 match threshold.

I have contacted the individuals with e-mail addresses, asking about their matrilineal heritage.  One person said the tester’s mother’s heritage was from India, so that haplogroup M is not on the research list, of course, because it is proven to be from elsewhere – a place where haplogroup M and subgroups are quite common.

In total, there were 15 new potentially Native DNA mitochondrial DNA haplogroups listed in the 12-27 extract.  I’ll be adding those to my research notes as soon as I have the opportunity to contact these folks and ask about their known matrilineal genealogy.

I didn’t really anticipate that there would be so much change, nor so quickly, so it looks like I’m going to have to check the Anzick matches for potential Native mitochondrial haplogroups much more often.

Since it looks like there may be lots of additions over time, far more than I expected, I’ll also be going back and making better notes in my research file.  I will, for example, note the kit number and date for all of the extractions.  For this and future extractions, I’ll also be listing the number of results per haplogroup.  I think that would be valuable information as well.

I’d like to thank Armando for raising this topic.  The research into matching with a kit that has the entire spectrum of SNPs from all three of the companies has been quite interesting.  In fact, unless Felix has added all of the SNPs to the other ancient kits, this is the only kit in existence that has all of the SNPs from all of the companies included.

My thanks to Felix Immanuel (formerly Felix Chandrakumar) and John Olson for assistance with research for this article.

2014 Top Genetic Genealogy Happenings – A Baker’s Dozen +1

It’s that time again, to look over the year that has just passed and take stock of what has happened in the genetic genealogy world.  I wrote a review in both 2012 and 2013 as well.  Looking back, these momentous happenings seem quite “old hat” now.  For example, both www.GedMatch.com and www.DNAGedcom.com, once new, have become indispensable tools that we take for granted.  Please keep in mind that both of these tools (as well as others in the Tools section, below) depend on contributions, although GedMatch now has a tier 1 subscription offering for $10 per month as well.

So what was the big news in 2014?

Beyond the Tipping Point

Genetic genealogy has gone over the tipping point.  Genetic genealogy is now, unquestionably, mainstream and lots of people are taking part.  From the best I can figure, there are now approaching or have surpassed three million tests or test records, although certainly some of those are duplicates.

  • 500,000+ at 23andMe
  • 700,000+ at Ancestry
  • 700,000+ at Genographic

The organizations above represent “one-test” companies.  Family Tree DNA provides various kinds of genetic genealogy tests to the community and they have over 380,000 individuals with more than 700,000 test records.

In addition to the above mentioned mainstream firms, there are other companies that provide niche testing, often in addition to Family Tree DNA Y results.

In addition, there is what I would refer to as a secondary market for testing as well which certainly attracts people who are not necessarily genetic genealogists but who happen across their corporate information and decide the test looks interesting.  There is no way of knowing how many of those tests exist.

Additionally, there is still the Sorenson data base with Y and mtDNA tests which reportedly exceeded their 100,000 goal.

Spencer Wells spoke about the “viral spread threshold” in his talk in Houston at the International Genetic Genealogy Conference in October and terms 2013 as the year of infection.  I would certainly agree.

spencer near term

Autosomal Now the New Normal

Another change in the landscape is that now, autosomal DNA has become the “normal” test.  The big attraction to autosomal testing is that anyone can play and you get lots of matches.  Earlier in the year, one of my cousins was very disappointed in her brother’s Y DNA test because he only had a few matches, and couldn’t understand why anyone would test the Y instead of autosomal where you get lots and lots of matches.  Of course, she didn’t understand the difference in the tests or the goals of the tests – but I think as more and more people enter the playground – percentagewise – fewer and fewer do understand the differences.

Case in point is that someone contacted me about DNA and genealogy.  I asked them which tests they had taken and where and their answer was “the regular one.”  With a little more probing, I discovered that they took Ancestry’s autosomal test and had no clue there were any other types of tests available, what they could tell him about his ancestors or genetic history or that there were other vendors and pools to swim in as well.

A few years ago, we not only had to explain about DNA tests, but why the Y and mtDNA is important.  Today, we’ve come full circle in a sense – because now we don’t have to explain about DNA testing for genealogy in general but we still have to explain about those “unknown” tests, the Y and mtDNA.  One person recently asked me, “oh, are those new?”

Ancient DNA

This year has seen many ancient DNA specimens analyzed and sequenced at the full genomic level.

The year began with a paper titled, “When Populations Collide” which revealed that contemporary Europeans carry between 1-4% of Neanderthal DNA most often associated with hair and skin color, or keratin.  Africans, on the other hand, carry none or very little Neanderthal DNA.

http://dna-explained.com/2014/01/30/neanderthal-genome-further-defined-in-contemporary-eurasians/

A month later, a monumental paper was published that detailed the results of sequencing a 12,500 Clovis child, subsequently named Anzick or referred to as the Anzick Clovis child, in Montana.  That child is closely related to Native American people of today.

http://dna-explained.com/2014/02/13/clovis-people-are-native-americans-and-from-asia-not-europe/

In June, another paper emerged where the authors had analyzed 8000 year old bones from the Fertile Crescent that shed light on the Neolithic area before the expansion from the Fertile Crescent into Europe.  These would be the farmers that assimilated with or replaced the hunter-gatherers already living in Europe.

http://dna-explained.com/2014/06/09/dna-analysis-of-8000-year-old-bones-allows-peek-into-the-neolithic/

Svante Paabo is the scientist who first sequenced the Neanderthal genome.  Here is a neanderthal mangreat interview and speech.  This man is so interesting.  If you have not read his book, “Neanderthal Man, In Search of Lost Genomes,” I strongly recommend it.

http://dna-explained.com/2014/07/22/finding-your-inner-neanderthal-with-evolutionary-geneticist-svante-paabo/

In the fall, yet another paper was released that contained extremely interesting information about the peopling and migration of humans across Europe and Asia.  This was just before Michael Hammer’s presentation at the Family Tree DNA conference, so I covered the paper along with Michael’s information about European ancestral populations in one article.  The take away messages from this are two-fold.  First, there was a previously undefined “ghost population” called Ancient North Eurasian (ANE) that is found in the northern portion of Asia that contributed to both Asian populations, including those that would become the Native Americans and European populations as well.  Secondarily, the people we thought were in Europe early may not have been, based on the ancient DNA remains we have to date.  Of course, that may change when more ancient DNA is fully sequenced which seems to be happening at an ever-increasing rate.

http://dna-explained.com/2014/10/21/peopling-of-europe-2014-identifying-the-ghost-population/

Lazaridis tree

Ancient DNA Available for Citizen Scientists

If I were to give a Citizen Scientist of the Year award, this year’s award would go unquestionably to Felix Chandrakumar for his work with the ancient genome files and making them accessible to the genetic genealogy world.  Felix obtained the full genome files from the scientists involved in full genome analysis of ancient remains, reduced the files to the SNPs utilized by the autosomal testing companies in the genetic genealogy community, and has made them available at GedMatch.

http://dna-explained.com/2014/09/22/utilizing-ancient-dna-at-gedmatch/

If this topic is of interest to you, I encourage you to visit his blog and read his many posts over the past several months.

https://plus.google.com/+FelixChandrakumar/posts

The availability of these ancient results set off a sea of comparisons.  Many people with Native heritage matched Anzick’s file at some level, and many who are heavily Native American, particularly from Central and South America where there is less admixture match Anzick at what would statistically be considered within a genealogical timeframe.  Clearly, this isn’t possible, but it does speak to how endogamous populations affect DNA, even across thousands of years.

http://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Because Anzick is matching so heavily with the Mexican, Central and South American populations, it gives us the opportunity to extract mitochondrial DNA haplogroups from the matches that either are or may be Native, if they have not been recorded before.

http://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Needless to say, the matches of these ancient kits with contemporary people has left many people questioning how to interpret the results.  The answer is that we don’t really know yet, but there is a lot of study as well as speculation occurring.  In the citizen science community, this is how forward progress is made…eventually.

http://dna-explained.com/2014/09/25/ancient-dna-matches-what-do-they-mean/

http://dna-explained.com/2014/09/30/ancient-dna-matching-a-cautionary-tale/

More ancient DNA samples for comparison:

http://dna-explained.com/2014/10/04/more-ancient-dna-samples-for-comparison/

A Siberian sample that also matches the Malta Child whose remains were analyzed in late 2013.

http://dna-explained.com/2014/11/12/kostenki14-a-new-ancient-siberian-dna-sample/

Felix has prepared a list of kits that he has processed, along with their GedMatch numbers and other relevant information, like gender, haplogroup(s), age and location of sample.

http://www.y-str.org/p/ancient-dna.html

Furthermore, in a collaborative effort with Family Tree DNA, Felix formed an Ancient DNA project and uploaded the ancient autosomal files.  This is the first time that consumers can match with Ancient kits within the vendor’s data bases.

https://www.familytreedna.com/public/Ancient_DNA

Recently, GedMatch added a composite Archaic DNA Match comparison tool where your kit number is compared against all of the ancient DNA kits available.  The output is a heat map showing which samples you match most closely.

gedmatch ancient heat map

Indeed, it has been a banner year for ancient DNA and making additional discoveries about DNA and our ancestors.  Thank you Felix.

Haplogroup Definition

That SNP tsunami that we discussed last year…well, it made landfall this year and it has been storming all year long…in a good way.  At least, ultimately, it will be a good thing.  If you asked the haplogroup administrators today about that, they would probably be too tired to answer – as they’ve been quite overwhelmed with results.

The Big Y testing has been fantastically successful.  This is not from a Family Tree DNA perspective, but from a genetic genealogy perspective.  Branches have been being added to and sawed off of the haplotree on a daily basis.  This forced the renaming of the haplogroups from the old traditional R1b1a2 to R-M269 in 2012.  While there was some whimpering then, it would be nothing like the outright wailing now that would be occurring as haplogroup named reached 20 or so digits.

Alice Fairhurst discussed the SNP tsunami at the DNA Conference in Houston in October and I’m sure that the pace hasn’t slowed any between now and then.  According to Alice, in early 2014, there were 4115 individual SNPs on the ISOGG Tree, and as of the conference, there were 14,238 SNPs, with the 2014 addition total at that time standing at 10,213.  That is over 1000 per month or about 35 per day, every day.

Yes, indeed, that is the definition of a tsunami.  Every one of those additions requires one of a number of volunteers, generally haplogroup project administrators to evaluate the various Big Y results, the SNPs and novel variants included, where they need to be inserted in the tree and if branches need to be rearranged.  In some cases, naming request for previously unknown SNPs also need to be submitted.  This is all done behind the scenes and it’s not trivial.

The project I’m closest to is the R1b L-21 project because my Estes males fall into that group.  We’ve tested several, and I’ll be writing an article as soon as the final test is back.

The tree has grown unbelievably in this past year just within the L21 group.  This project includes over 700 individuals who have taken the Big Y test and shared their results which has defined about 440 branches of the L21 tree.  Currently there are almost 800 kits available if you count the ones on order and the 20 or so from another vendor.

Here is the L21 tree in January of 2014

L21 Jan 2014 crop

Compare this with today’s tree, below.

L21 dec 2014

Michael Walsh, Richard Stevens, David Stedman need to be commended for their incredible work in the R-L21 project.  Other administrators are doing equivalent work in other haplogroup projects as well.  I big thank you to everyone.  We’d be lost without you!

One of the results of this onslaught of information is that there have been fewer and fewer academic papers about haplogroups in the past few years.  In essence, by the time a paper can make it through the peer review cycle and into publication, the data in the paper is often already outdated relative to the Y chromosome.  Recently a new paper was released about haplogroup C3*.  While the data is quite valid, the authors didn’t utilize the new SNP naming nomenclature.  Before writing about the topic, I had to translate into SNPese.  Fortunately, C3* has been relatively stable.

http://dna-explained.com/2014/12/23/haplogroup-c3-previously-believed-east-asian-haplogroup-is-proven-native-american/

10th Annual International Conference on Genetic Genealogy

The Family Tree DNA International Conference on Genetic Genealogy for project administrators is always wonderful, but this year was special because it was the 10th annual.  And yes, it was my 10th year attending as well.  In all these years, I had never had a photo with both Max and Bennett.  Everyone is always so busy at the conferences.  Getting any 3 people, especially those two, in the same place at the same time takes something just short of a miracle.

roberta, max and bennett

Ten years ago, it was the first genetic genealogy conference ever held, and was the only place to obtain genetic genealogy education outside of the rootsweb genealogy DNA list, which is still in existence today.  Family Tree DNA always has a nice blend of sessions.  I always particularly appreciate the scientific sessions because those topics generally aren’t covered elsewhere.

http://dna-explained.com/2014/10/11/tenth-annual-family-tree-dna-conference-opening-reception/

http://dna-explained.com/2014/10/12/tenth-annual-family-tree-dna-conference-day-2/

http://dna-explained.com/2014/10/13/tenth-annual-family-tree-dna-conference-day-3/

http://dna-explained.com/2014/10/15/tenth-annual-family-tree-dna-conference-wrapup/

Jennifer Zinck wrote great recaps of each session and the ISOGG meeting.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-isogg-meeting/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-sunday/

I thank Family Tree DNA for sponsoring all 10 conferences and continuing the tradition.  It’s really an amazing feat when you consider that 15 years ago, this industry didn’t exist at all and wouldn’t exist today if not for Max and Bennett.

Education

Two educational venues offered classes for genetic genealogists and have made their presentations available either for free or very reasonably.  One of the problems with genetic genealogy is that the field is so fast moving that last year’s session, unless it’s the very basics, is probably out of date today.  That’s the good news and the bad news.

http://dna-explained.com/2014/11/12/genetic-genealogy-ireland-2014-presentations 

http://dna-explained.com/2014/09/26/educational-videos-from-international-genetic-genealogy-conference-now-available/

In addition, three books have been released in 2014.emily book

In January, Emily Aulicino released Genetic Genealogy, The Basics and Beyond.

richard hill book

In October, Richard Hill released “Guide to DNA Testing: How to Identify Ancestors, Confirm Relationships and Measure Ethnicity through DNA Testing.”

david dowell book

Most recently, David Dowell’s new book, NextGen Genealogy: The DNA Connection was released right after Thanksgiving.

 

Ancestor Reconstruction – Raising the Dead

This seems to be the year that genetic genealogists are beginning to reconstruct their ancestors (on paper, not in the flesh) based on the DNA that the ancestors passed on to various descendants.  Those segments are “gathered up” and reassembled in a virtual ancestor.

I utilized Kitty Cooper’s tool to do just that.

http://dna-explained.com/2014/10/03/ancestor-reconstruction/

henry bolton probablyI know it doesn’t look like much yet but this is what I’ve been able to gather of Henry Bolton, my great-great-great-grandfather.

Kitty did it herself too.

http://blog.kittycooper.com/2014/08/mapping-an-ancestral-couple-a-backwards-use-of-my-segment-mapper/

http://blog.kittycooper.com/2014/09/segment-mapper-tool-improvements-another-wold-dna-map/

Ancestry.com wrote a paper about the fact that they have figured out how to do this as well in a research environment.

http://corporate.ancestry.com/press/press-releases/2014/12/ancestrydna-reconstructs-partial-genome-of-person-living-200-years-ago/

http://www.thegeneticgenealogist.com/2014/12/16/ancestrydna-recreates-portions-genome-david-speegle-two-wives/

GedMatch has created a tool called, appropriately, Lazarus that does the same thing, gathers up the DNA of your ancestor from their descendants and reassembles it into a DNA kit.

Blaine Bettinger has been working with and writing about his experiences with Lazarus.

http://www.thegeneticgenealogist.com/2014/10/20/finally-gedmatch-announces-monetization-strategy-way-raise-dead/

http://www.thegeneticgenealogist.com/2014/12/09/recreating-grandmothers-genome-part-1/

http://www.thegeneticgenealogist.com/2014/12/14/recreating-grandmothers-genome-part-2/

Tools

Speaking of tools, we have some new tools that have been introduced this year as well.

Genome Mate is a desktop tool used to organize data collected by researching DNA comparsions and aids in identifying common ancestors.  I have not used this tool, but there are others who are quite satisfied.  It does require Microsoft Silverlight be installed on your desktop.

The Autosomal DNA Segment Analyzer is available through www.dnagedcom.com and is a tool that I have used and found very helpful.  It assists you by visually grouping your matches, by chromosome, and who you match in common with.

adsa cluster 1

Charting Companion from Progeny Software, another tool I use, allows you to colorize and print or create pdf files that includes X chromosome groupings.  This greatly facilitates seeing how the X is passed through your ancestors to you and your parents.

x fan

WikiTree is a free resource for genealogists to be able to sort through relationships involving pedigree charts.  In November, they announced Relationship Finder.

Probably the best example I can show of how WikiTree has utilized DNA is using the results of King Richard III.

wiki richard

By clicking on the DNA icon, you see the following:

wiki richard 2

And then Richard’s Y, mitochondrial and X chromosome paths.

wiki richard 3

Since Richard had no descendants, to see how descendants work, click on his mother, Cecily of York’s DNA descendants and you’re shown up to 10 generations.

wiki richard 4

While this isn’t terribly useful for Cecily of York who lived and died in the 1400s, it would be incredibly useful for finding mitochondrial descendants of my ancestor born in 1802 in Virginia.  I’d love to prove she is the daughter of a specific set of parents by comparing her DNA with that of a proven daughter of those parents!  Maybe I’ll see if I can find her parents at WikiTree.

Kitty Cooper’s blog talks about additional tools.  I have used Kitty’s Chromosome mapping tools as discussed in ancestor reconstruction.

Felix Chandrakumar has created a number of fun tools as well.  Take a look.  I have not used most of these tools, but there are several I’ll be playing with shortly.

Exits and Entrances

With very little fanfare, deCODEme discontinued their consumer testing and reminded people to download their date before year end.

http://dna-explained.com/2014/09/30/decodeme-consumer-tests-discontinued/

I find this unfortunate because at one time, deCODEme seemed like a company full of promise for genetic genealogy.  They failed to take the rope and run.

On a sad note, Lucas Martin who founded DNA Tribes unexpectedly passed away in the fall.  DNA Tribes has been a long-time player in the ethnicity field of genetic genealogy.  I have often wondered if Lucas Martin was a pseudonym, as very little information about Lucas was available, even from Lucas himself.  Neither did I find an obituary.  Regardless, it’s sad to see someone with whom the community has worked for years pass away.  The website says that they expect to resume offering services in January 2015. I would be cautious about ordering until the structure of the new company is understood.

http://www.dnatribes.com/

In the last month, a new offering has become available that may be trying to piggyback on the name and feel of DNA Tribes, but I’m very hesitant to provide a link until it can be determined if this is legitimate or bogus.  If it’s legitimate, I’ll be writing about it in the future.

However, the big news exit was Ancestry’s exit from the Y and mtDNA testing arena.  We suspected this would happen when they stopped selling kits, but we NEVER expected that they would destroy the existing data bases, especially since they maintain the Sorenson data base as part of their agreement when they obtained the Sorenson data.

http://dna-explained.com/2014/10/02/ancestry-destroys-irreplaceable-dna-database/

The community is still hopeful that Ancestry may reverse that decision.

Ancestry – The Chromosome Browser War and DNA Circles

There has been an ongoing battle between Ancestry and the more seasoned or “hard-core” genetic genealogists for some time – actually for a long time.

The current and most long-standing issue is the lack of a chromosome browser, or any similar tools, that will allow genealogists to actually compare and confirm that their DNA match is genuine.  Ancestry maintains that we don’t need it, wouldn’t know how to use it, and that they have privacy concerns.

Other than their sessions and presentations, they had remained very quiet about this and not addressed it to the community as a whole, simply saying that they were building something better, a better mousetrap.

In the fall, Ancestry invited a small group of bloggers and educators to visit with them in an all-day meeting, which came to be called DNA Day.

http://dna-explained.com/2014/10/08/dna-day-with-ancestry/

In retrospect, I think that Ancestry perceived that they were going to have a huge public relations issue on their hands when they introduced their new feature called DNA Circles and in the process, people would lose approximately 80% of their current matches.  I think they were hopeful that if they could educate, or convince us, of the utility of their new phasing techniques and resulting DNA Circles feature that it would ease the pain of people’s loss in matches.

I am grateful that they reached out to the community.  Some very useful dialogue did occur between all participants.  However, to date, nothing more has happened nor have we received any additional updates after the release of Circles.

Time will tell.

http://dna-explained.com/2014/11/18/in-anticipation-of-ancestrys-better-mousetrap/

http://dna-explained.com/2014/11/19/ancestrys-better-mousetrap-dna-circles/

DNA Circles 12-29-2014

DNA Circles, while interesting and somewhat useful, is certainly NOT a replacement for a chromosome browser, nor is it a better mousetrap.

http://dna-explained.com/2014/11/30/chromosome-browser-war/

In fact, the first thing you have to do when you find a DNA Circle that you have not verified utilizing raw data and/or chromosome browser tools from either 23andMe, Family Tree DNA or Gedmatch, is to talk your matches into transferring their DNA to Family Tree DNA or download to Gedmatch, or both.

http://dna-explained.com/2014/11/27/sarah-hickerson-c1752-lost-ancestor-found-52-ancestors-48/

I might add that the great irony of finding the Hickerson DNA Circle that led me to confirm that ancestry utilizing both Family Tree DNA and GedMatch is that today, when I checked at Ancestry, the Hickerson DNA Circle is no longer listed.  So, I guess I’ve been somehow pruned from the circle.  I wonder if that is the same as being voted off of the island.  So, word to the wise…check your circles often…they change and not always in the upwards direction.

The Seamy Side – Lies, Snake Oil Salesmen and Bullys

Unfortunately a seamy side, an underbelly that’s rather ugly has developed in and around the genetic genealogy industry.  I guess this was to be expected with the rapid acceptance and increasing popularity of DNA testing, but it’s still very unfortunate.

Some of this I expected, but I didn’t expect it to be so…well…blatant.

I don’t watch late night TV, but I’m sure there are now DNA diets and DNA dating and just about anything else that could be sold with the allure of DNA attached to the title.

I googled to see if this was true, and it is, although I’m not about to click on any of those links.

google dna dating

google dna diet

Unfortunately, within the ever-growing genetic genealogy community a rather large rift has developed over the past couple of years.  Obviously everyone can’t get along, but this goes beyond that.  When someone disagrees, a group actively “stalks” the person, trying to cost them their employment, saying hate filled and untrue things and even going so far as to create a Facebook page titled “Against<personname>.”  That page has now been removed, but the fact that a group in the community found it acceptable to create something like that, and their friends joined, is remarkable, to say the least.  That was accompanied by death threats.

Bullying behavior like this does not make others feel particularly safe in expressing their opinions either and is not conducive to free and open discussion. As one of the law enforcement officers said, relative to the events, “This is not about genealogy.  I don’t know what it is about, yet, probably money, but it’s not about genealogy.”

Another phenomenon is that DNA is now a hot topic and is obviously “selling.”  Just this week, this report was published, and it is, as best we can tell, entirely untrue.

http://worldnewsdailyreport.com/usa-archaeologists-discover-remains-of-first-british-settlers-in-north-america/

There were several tip offs, like the city (Lanford) and county (Laurens County) is not in the state where it is attributed (it’s in SC not NC), and the name of the institution is incorrect (Johns Hopkins, not John Hopkins).  Additionally, if you google the name of the magazine, you’ll see that they specialize in tabloid “faux reporting.”  It also reads a lot like the King Richard genuine press release.

http://urbanlegends.about.com/od/Fake-News/tp/A-Guide-to-Fake-News-Websites.01.htm

Earlier this year, there was a bogus institutional site created as well.

On one of the DNA forums that I frequent, people often post links to articles they find that are relevant to DNA.  There was an interesting article, which has now been removed, correlating DNA results with latitude and altitude.  I thought to myself, I’ve never heard of that…how interesting.   Here’s part of what the article said:

Researchers at Aberdeen College’s Havering Centre for Genetic Research have discovered an important connection between our DNA and where our ancestors used to live.

Tiny sequence variations in the human genome sometimes called Single Nucleotide Polymorphisms (SNPs) occur with varying frequency in our DNA.  These have been studied for decades to understand the major migrations of large human populations.  Now Aberdeen College’s Dr. Miko Laerton and a team of scientists have developed pioneering research that shows that these differences in our DNA also reveal a detailed map of where our own ancestors lived going back thousands of years.

Dr. Laerton explains:  “Certain DNA sequence variations have always been important signposts in our understanding of human evolution because their ages can be estimated.  We’ve known for years that they occur most frequently in certain regions [of DNA], and that some alleles are more common to certain geographic or ethnic groups, but we have never fully understood the underlying reasons.  What our team found is that the variations in an individual’s DNA correlate with the latitudes and altitudes where their ancestors were living at the time that those genetic variations occurred.  We’re still working towards a complete understanding, but the knowledge that sequence variations are connected to latitude and altitude is a huge breakthrough by itself because those are enough to pinpoint where our ancestors lived at critical moments in history.”

The story goes on, but at the bottom, the traditional link to the publication journal is found.

The full study by Dr. Laerton and her team was published in the September issue of the Journal of Genetic Science.

I thought to myself, that’s odd, I’ve never heard of any of these people or this journal, and then I clicked to find this.

Aberdeen College bogus site

About that time, Debbie Kennett, DNA watchdog of the UK, posted this:

April Fools Day appears to have arrived early! There is no such institution as Aberdeen College founded in 1394. The University of Aberdeen in Scotland was founded in 1495 and is divided into three colleges: http://www.abdn.ac.uk/about/colleges-schools-institutes/colleges-53.php

The picture on the masthead of the “Aberdeen College” website looks very much like a photo of Aberdeen University. This fake news item seems to be the only live page on the Aberdeen College website. If you click on any other links, including the link to the so-called “Journal of Genetic Science”, you get a message that the website is experienced “unusually high traffic”. There appears to be no such journal anyway.

We also realized that Dr. Laerton, reversed, is “not real.”

I still have no idea why someone would invest the time and effort into the fake website emulating the University of Aberdeen, but I’m absolutely positive that their motives were not beneficial to any of us.

What is the take-away of all of this?  Be aware, very aware, skeptical and vigilant.  Stick with the mainstream vendors unless you realize you’re experimenting.

King Richard

King Richard III

The much anticipated and long-awaited DNA results on the remains of King Richard III became available with a very unexpected twist.  While the science team feels that they have positively identified the remains as those of Richard, the Y DNA of Richard and another group of men supposed to have been descended from a common ancestor with Richard carry DNA that does not match.

http://dna-explained.com/2014/12/09/henry-iii-king-of-england-fox-in-the-henhouse-52-ancestors-49/

http://dna-explained.com/2014/12/05/mitochondrial-dna-mutation-rates-and-common-ancestors/

Debbie Kennett wrote a great summary article.

http://cruwys.blogspot.com/2014/12/richard-iii-and-use-of-dna-as-evidence.html

More Alike than Different

One of the life lessons that genetic genealogy has held for me is that we are more closely related that we ever knew, to more people than we ever expected, and we are far more alike than different.  A recent paper recently published by 23andMe scientists documents that people’s ethnicity reflect the historic events that took place in the part of the country where their ancestors lived, such as slavery, the Trail of Tears and immigration from various worldwide locations.

23andMe European African map

From the 23andMe blog:

The study leverages samples of unprecedented size and precise estimates of ancestry to reveal the rate of ancestry mixing among American populations, and where it has occurred geographically:

  • All three groups – African Americans, European Americans and Latinos – have ancestry from Africa, Europe and the Americas.
  • Approximately 3.5 percent of European Americans have 1 percent or more African ancestry. Many of these European Americans who describe themselves as “white” may be unaware of their African ancestry since the African ancestor may be 5-10 generations in the past.
  • European Americans with African ancestry are found at much higher frequencies in southern states than in other parts of the US.

The ancestry proportions point to the different regional impacts of slavery, immigration, migration and colonization within the United States:

  • The highest levels of African ancestry among self-reported African Americans are found in southern states, especially South Carolina and Georgia.
  • One in every 20 African Americans carries Native American ancestry.
  • More than 14 percent of African Americans from Oklahoma carry at least 2 percent Native American ancestry, likely reflecting the Trail of Tears migration following the Indian Removal Act of 1830.
  • Among self-reported Latinos in the US, those from states in the southwest, especially from states bordering Mexico, have the highest levels of Native American ancestry.

http://news.sciencemag.org/biology/2014/12/genetic-study-reveals-surprising-ancestry-many-americans?utm_campaign=email-news-weekly&utm_source=eloqua

23andMe provides a very nice summary of the graphics in the article at this link:

http://blog.23andme.com/wp-content/uploads/2014/10/Bryc_ASHG2014_textboxes.pdf

The academic article can be found here:

http://www.cell.com/ajhg/home

2015

So what does 2015 hold? I don’t know, but I can’t wait to find out. Hopefully, it holds more ancestors, whether discovered through plain old paper research, cousin DNA testing or virtually raised from the dead!

What would my wish list look like?

  • More ancient genomes sequenced, including ones from North and South America.
  • Ancestor reconstruction on a large scale.
  • The haplotree becoming fleshed out and stable.
  • Big Y sequencing combined with STR panels for enhanced genealogical research.
  • Improved ethnicity reporting.
  • Mitochondrial DNA search by ancestor for descendants who have tested.
  • More tools, always more tools….
  • More time to use the tools!

Here’s wishing you an ancestor filled 2015!

 

Haplogroup C3* – Previously Believed East Asian Haplogroup is Proven Native American

In a paper just released, “Insights into the origin of rare haplogroup C3* Y chromosomes in South America from high-density autosomal SNP genotyping,” by Mezzavilla et al, research shows that haplogroup C3* (M217, P44, Z1453), previously believed to be exclusively East Asian, is indeed, Native American.

Subgroup C-P39 (formerly C3b) was previously proven to be Native and is found primarily in the eastern US and Canada although it was also reported among the Na-Dene in the 2004 paper by Zegura et all titled “High-resolution SNPs and microsatellite haplotypes point to a single recent entry of Native American Y chromosomes into the Americas.”

The discovery of C3* as Native is great news, as it more fully defines the indigenous American Y chromosome landscape.  It also is encouraging in that several mitochondrial haplogroups, including variants of M, have also been found in Central and South America, also not previously found in North America and also only previously found in Asia, Polynesia and even as far away as Madagascar.  They too had to come from someplace and desperately need additional research of this type.  There is a great deal that we don’t know today that remains to be discovered.  As in the past, what is thought to be fact doesn’t always hold water under the weight of new discoveries – so it’s never wise to drive a stake too far in the ground in the emerging world of genetics.  It’s likely to get moved!

You can view the Y DNA projects for C-M217 here, C-P39 here, and the main C project here.  Please note that on the latest version of the ISOGG tree, M217, P44 and Z1453 are now listed as C2, not C3.  Also note that I added the SNP names in this article.  The Mezzavilla paper references the earlier C3 type naming convention which I have used in discussing their article to avoid confusion.

In the Messavilla study, fourteen individuals from the Kichwa and Waorani populations of South America were discovered to carry haplogroup C3*.  Most of the individuals within these populations carry variants of expected haplogroup Q, with the balance of 26% of the Kichwa samples and 7.5% of the Waorani samples carrying C3*.  MRCA estimates between the groups are estimated to be between 5.0-6.2 KYA, or years before present.

Other than one C3* individual in Alaska, C3* is unknown in the rest of the Native world including all of North American and the balance of Central and South America, but is common and widespread in East Asia.

In the paper, the authors state that:

We set out to test whether or not the haplogroup C3* Y chromosomes found at a mean frequency of 17% in two Ecuadorian populations could have been introduced by migration from East Asia, where this haplogroup is common. We considered recent admixture in the last few generations and, based on an archaeological link between the middle Jōmon culture in Japan and the Valdivia culture in Ecuador, a specific example of ancient admixture between Japan and Ecuador 6 Kya.

In a paper, written by Estrada et all, titled “Possible Transpacific Contact on the Cost of Ecuador”, Estrada states that the earliest pottery-producing culture on the coast of Ecuador, the Valdivia culture, shows many striking similarities in decoration and vessel shape to pottery of eastern Asia. In Japan, resemblances are closest to the Middle Jomon period. Both early Valdivia and Middle Jomon are dated between 2000 and 3000 B.C. A transpacific contact from Asia to Ecuador during this time is postulated.

This of course, opens the door for Asian haplogroups not found elsewhere to be found in Ecuador.

The introduction of the Mezzabilla paper states:

The consensus view of the peopling of the Americas, incorporating archaeological, linguistic and genetic evidence, proposes colonization by a small founder population from Northeast Asia via Beringia 15–20 Kya (thousand years ago), followed by one or two additional migrations also via Alaska, contributing only to the gene pools of North Americans, and little subsequent migration into the Americas south of the Arctic Circle before the voyages from Europe initiated by Columbus in 1492.

In the most detailed genetic analysis thus far, for example, Reich and colleagues identified three sources of Native American ancestry: a ‘First American’ stream contributing to all Native populations, a second stream contributing only to Eskimo-Aleut-speaking Arctic populations, and a third stream contributing only to a Na-Dene-speaking North American population.

Nevertheless, there is strong evidence for additional long-distance contacts between the Americas and other continents between these initial migrations and 1492. Norse explorers reached North America around 1000 CE and established a short-lived colony, documented in the Vinland Sagas and supported by archaeological excavations. The sweet potato (Ipomoea batatas) was domesticated in South America (probably Peru), but combined genetic and historical analyses demonstrate that it was transported from South America to Polynesia before 1000–1100 CE. Some inhabitants of Easter Island (Rapa Nui) carry HLA alleles characteristic of South America, most readily explained by gene flow after the colonization of the island around 1200 CE but before European contact in 1722. In Brazil, two nineteenth-century Botocudo skulls carrying the mtDNA Polynesian motif have been reported, and a Pre-Columbian date for entry of this motif into the Americas discussed, although a more recent date was considered more likely. Thus South America was in two-way contact with other continental regions in prehistoric times, but there is currently no unequivocal evidence for outside gene flow into South America between the initial colonization by the ‘First American’ stream and European contact.

The researchers originally felt that the drift concept, which means that the line was simply lost to time in other American locations outside of Ecuador, was not likely because the populations of North and Central America have in general experienced less drift and retained more diversity than those in South America.

The paper abstract states:

The colonization of Americas is thought to have occurred 15–20 thousand years ago (Kya), with little or no subsequent migration into South America until the European expansions beginning 0.5 Kya. Recently, however, haplogroup C3* Y chromosomes were discovered in two nearby Native American populations from Ecuador. Since this haplogroup is otherwise nearly absent from the Americas but is common in East Asia, and an archaeological link between Ecuador and Japan is known from 6 Kya, an additional migration 6 Kya was suggested.

Here, we have generated high-density autosomal SNP genotypes from the Ecuadorian populations and compared them with genotypes from East Asia and elsewhere to evaluate three hypotheses: a recent migration from Japan, a single pulse of migration from Japan 6 Kya, and no migration after the First Americans.

First, using forward-time simulations and an appropriate demographic model, we investigated our power to detect both ancient and recent gene flow at different levels. Second, we analyzed 207,321 single nucleotide polymorphisms from 16 Ecuadorian individuals, comparing them with populations from the HGDP panel using descriptive and formal tests for admixture. Our simulations revealed good power to detect recent admixture, and that ≥5% admixture 6 Kya ago could be detected.

However, in the experimental data we saw no evidence of gene flow from Japan to Ecuador. In summary, we can exclude recent migration and probably admixture 6 Kya as the source of the C3* Y chromosomes in Ecuador, and thus suggest that they represent a rare founding lineage lost by drift elsewhere.

This graphic from the paper, shows the three hypothesis that were being tested, with recent admixture being ruled out entirely, and admixture 6000 years ago most likely being ruled out as well by utilizing autosomal DNA.

Mezzavilla Map crop

The conclusions from the paper states that:

Three different hypotheses to explain the presence of C3* Y chromosomes in Ecuador but not elsewhere in the Americas were tested: recent admixture, ancient admixture ∼6 Kya, or entry as a founder haplogroup 15–20 Kya with subsequent loss by drift elsewhere. We can convincingly exclude the recent admixture model, and find no support for the ancient admixture scenario, although cannot completely exclude it. Overall, our analyses support the hypothesis that C3* Y chromosomes were present in the “First American” ancestral population, and have been lost by drift from most modern populations except the Ecuadorians.

It will be interesting as additional people are tested and more ancient DNA is discovered and processed to see what other haplogroups will be found in Native people and remains that were previously thought to be exclusively Asian, or perhaps even African or European.

This discovery also begs a different sort of question that will eventually need to be answered.  Clearly, we classify the descendants of people who arrived with the original Beringian and subsequent wave migrants as Native American, Indigenous American or First Nations.  However, how would we classify these individuals if they had arrived 6000 years ago, or 2000 years ago – still before Columbus or significant European or African admixture – but not with the first wave of Asian founders?  If found today in South Americans, could they be taken as evidence of Native American heritage?  Clearly, in this context, yes – as opposed to African or European.  Would they still be considered only Asian or both Asian and Native American in certain contexts – as is now the case for haplogroup C3* (M217)?  This scenario could easily and probably will happen with other haplogroups as well.