Why Don’t I Match My Cousin?

no cousin

I receive this question regularly from people who have taken one of the autosomal DNA tests and who expected to match a cousin, but don’t.

Of course, the Jeff Foxworthy in me wants to say, “Because he’s not your cousin,” but fortunately, I never let my inner Jeff Foxworthy out in public.

Actually, that’s often their biggest fear – that they are uncovering a very unpleasant family secret – but Jeff Foxworthy aside – that’s generally not the case.

Let’s take a look at why.

According to Family Tree DNA’s FAQ on the subject, combined with the percentage of DNA shared with each type of cousin, we find the following.

Relationship to You Likelihood of a Match % of DNA Shared
1st Cousin (common grandparents) 100% 7-13
2nd Cousin (common great-grandparents) >99% 3-5
3rd Cousin (common great-great grandparents >90% .3-2
4th Cousin (common ggg grandparents) >50% <1%
5th Cousin (common gggg grandparents) >10% Sometimes none detectable at match threshold
6th Cousin (common ggggg grandparents) <2% Often none detectable at match threshold

If you don’t match your first cousin, then you need to start thinking about Jeff Foxworthy or you’re simply extremely lucky, or unlucky, depending on your perspective.  Buy a lottery ticket. 

In all seriousness, if you don’t match a first cousin, consider having your sibling (or parent) or your cousin’s sibling or relevant parent test as well.  In some cases, two people simply inherit different DNA and even though they don’t match each other, they do match other people in the same family. 

However, if you’re going to go down this path, be prepared that the answer may be that you really aren’t genetic cousins.  By the time you get to this point, you’ve already peeked into Pandora’s box though, so it’s kind of hard to shut the crack and pretend you never looked. 

Another option for determining whether or not you really match that cousin is to download both of your results to GedMatch.  The testing companies have pre-set match thresholds that determine what is and is not a match.  That’s a good thing, but what if your match is just slightly under that threshold, and there aren’t other relatives to test?  GedMatch allows you to match at very small segment levels that would generally be considered population matches and not genealogy matches.  

Judy Russell had the perfect example of just this situation in her Widen the Net blog.  Her mismatch was with a 3rd cousin.  According to this the chart above, she stood a greater than 90% change of matching, but she didn’t, so she’s in the special 10%.  And that 10% gets left wondering.  Fortunately, Judy had tested aunts, uncles and another first cousin, and her cousin who did not match her did match them. 

The moral of this story is:

  • Ignore Jeff Foxworthy when he starts to whisper in your ear, at least initially
  • Test as many family members as you can
  • Don’t jump to conclusions
  • Utilize third party tools like GedMatch if necessary
  • Understand that if you test enough family lines, you will eventually find an undocumented adoption someplace

Daughtered Out – Holding the Torch

Daughtered out – this is a term used early on in genetic genealogy and I haven’t heard it for some time now.

What it means is when you can’t find a descendant of a female ancestor who carries their mitochondrial DNA because there aren’t any to find.  Of course, to carry the mitochondrial DNA of an ancestor, you must have descended from that ancestor through all women between them and you, shown by the red circles below.

yline mtdna

You, yourself, can be a male, like the brother above.  That part doesn’t matter, because both genders of children inherit the red mitochondrial DNA of the mother, but only females pass it on.

Where there are no daughters, or no daughters have children, and in particular female children, the mitochondrial line dies out – it can no longer be passed on – and in that line of the family it exists no more.

In other words, the line has daughtered out – there are no daughters.

But I never thought about this in a personal way before – until today.

Today, I was pondering making a mitochondrial DNA quilt.  Yes, I’m a quiltmaker too – although I don’t have a lot of time to make quilts anymore.  And then I got to thinking about what would happen to the quilt after I’m gone.  My kids “reserve” quilts I make for ultimate ownership “someday.”  I’m glad to know they like them so much.  I try not to think of it as morbid.

I thought to myself, it should go to someone who carries that mitochondrial DNA.  But all of my children carry it.  And then, it struck me, kind of like a ton of bricks, there isn’t anyone in my family line that will carry it into the future.

I realized that I don’t have any grandchildren who carry my mitochondrial DNA.  Then I realized that I’m the only possibility for my generation to pass on mitochondrial DNA, because I don’t have any female siblings on my mother’s side.

Now, suddenly obsessed with knowing who carries my mitochondrial DNA, I began climbing back up my tree on the maternal line, and I discovered that between Elisabetha Mehlheimer, my oldest known ancestor, born about 1800 probably in Goppsmannbuhl (based on her daughter’s birth), Germany and me, that not one person has passed on their mitochondrial DNA to an offspring who has passed it to someone living today.

There are two possible exceptions in the lineage.

  • Elisabetha Mehlheimer – this is her maiden name – born about 1800, she was an unmarried servant when she gave birth to daughter Barbara in 1823 – almost nothing is known about Elisabetha except that she was dead before 1851.
  • Barbara Mehlheimer was born in 1823 in Goppsmannbuhl, Germany, the only known child of Elisabetha Mehlheimer and married George Drechsel (Drexler), immigrating to Aurora, Dearborn Co., Indiana.
  • Barbara had 5 daughters.  One was my ancestor, Barbara, born in 1848 who married Jacob Kirsch, both shown below.  Two other daughters either never married or had males or female children who didn’t marry.  Two daughters are “lost” after moving to Cincinnati, Ohio, living with their married sister after 1881.  Those two daughters are Teresa Maria “Mary” Drechsel (Drexler) and Caroline “Lina” Drechsel (Drexler).  If these two women married and had children, it’s possible that this mitochondrial line is not dead, but if they did not, then the line becomes extinct with me and my children.

kirsch family

  • Barbara Drechsel Kirsch (above, seated at right with black skirt, Jacob behind her) had 4 daughters and only one, Ellenore “Nora” Kirsch born in 1866 who married Curtis Benjamin Lore (couple at left, above), the oil-field playboy, had any children.

lore sisters motorcycle

  • Nora (above, with white hair) had 4 daughters, one of which died as a teenager after contracting tuberculosis from her father while caring for him.  Of the other three (above), aside from my grandmother, Edith (second from left), only one had children and she had all boys.

edith and mom croped

  • My grandmother Edith was born in 1888 Indianapolis, Indiana, married John Ferverda and moved to Silver Lake, Indiana.  She had two children, one boy and one girl, my mother, shown above.  My mother had only one daughter, me, below.

mom and me matching dresses

So this is where it ends – with me.  The end of a very long line of J1c2f women.  I am the end of the road.  I can’t help but feel sad.  I hope that someplace, maybe in or near Goppmannsbuhl, Germany, there is another woman someplace, my distant cousin, who is passing on our particular version of J1c2f – that maybe our line is not truly dead.  The fact that I actually do have full sequence near-matches suggests that it has survived someplace.  Suddenly those matches, even though I can’t genealogically connect to them, are much more important to me.  They represent hope.

Or maybe one of those 2 lost Drechsel (Drexler) sisters actually married and that line hasn’t daughtered out – but that’s doubtful because this family was close and I think documentation would have existed had they married.  My grandmother, Edith, attended “business college” in Cincinnati in the first decade of the 1900s, so she would have known any “great-aunts” living there, and indeed she did know the ones who are documented as having married and having children.

And while I find this turn of events disheartening, I also realize how important it is to document the information about my mitochondrial DNA in some public place or way where future descendants of these people can find the information if they so wish.  Even though they don’t carry her mitochondria, Elizabetha Mehlheimer is still the founding mother of that branch of our family and her mitochondria carries the story of her deep ancestry.  Since her mitochondrial DNA will no longer exist to be tested, documenting the test results and making them available for others is critically important.  In fact, it’s the last chance for this information not to be lost forever.  That would be a second death for Elizabetha.

At that point, for everyone’s line besides mine, Elizabetha Mehlheimer becomes one of those terribly frustrating lines on the pedigree chart where there is no prayer of finding someone to test – so the line sits there, blank, with no clan name, no haplogroup, no information about how that maternal line got to Europe, or America, from Africa and Asia.  Those secrets are held in the mitochondrial DNA that will no longer be available.

I have a couple of those frustratingly blank spots on my tree, below.  The grey Dodson, the green Herrell, the bright green DeJong, the yellow Lentz, the bright pink Hill, and the blue Kirsch, although that one is Yline.

DNA Pedigree

So what I’ll leave her future descendants, since there are no direct mitochondrial descendants, rather than a quilt, and much more important, the ultimate heirloom, will be her genetic code, etched someplace for posterity. I don’t want her to be someone’s blank spot.

Being the last of the line, a line that has daughtered out, carries a level of responsibility, of obligation, I never thought about before.  Maybe I need to look at some of my other lines with an eye out to see if the line is in the process of daughtering out as well.  If so, then it’s imperative to have the last of the line people tested, although how to make the results available at the right time to the right people in the future is another matter entirely.  Instead of passing the torch, as there is no one to pass it to, we need to find a way to hold it eternally.

Maybe we need a service called DNA-Vault.  It holds our DNA results until we die, and then they are made permanently, publicly available.

But back where I started, I still haven’t figured out who to leave the quilt to.

Double Helix Pedestrian Bridge

Helix bridge 1

World’s First Curved ‘Double Helix’ Pedestrian Bridge

This bridge in Marina Bay is the world’s first curved “Double Helix” pedestrian bridge. It comprises two opposite spiraling steel members that are held together by a series of connecting struts to form a tubular structure. This provides an inherent strength, ideal for the curved form. Its resemblance to the structure of DNA, the basic building block of life, symbolises “life and continuity”, “renewal”, “everlasting abundance” and “growth”, reflecting similar aspirations for Marina Bay.

The Helix Bridge, previously known as the Double Helix Bridge, is a pedestrian bridge linking Marina Centre with Marina South in the Marina Bay area in Singapore. It was officially opened in April of 2010 and completes an entire walkway around Marina Bay.

Canopies (made of fritted-glass and perforated steel mesh) are incorporated along parts of the inner spiral to provide shade for pedestrians. The bridge has four viewing platforms sited at strategic locations which provide stunning views of the Singapore skyline and events taking place within Marina Bay.  At night, the bridge is illuminated by a series of lights that highlight the double-helix structure, thereby creating a special visual experience for visitors.

It was also essential that the architectural lighting features should emphasize the bridge’s various shapes and curves.  Towards that end, a series of dynamic multi-coloured light-emitting diode (LED) lights are installed on the helix structures. Outward-facing lights accentuate the sweeping structural curves, with another discreet array of lights illuminating the internal canopy of glass and steel mesh to create a dynamic membrane of light. The inner helix uses white light to illuminate a path for pedestrians. Pairs of coloured letters c and g, as well as a and t on the bridge which are lit up at night in red and green represent cytosine, guanine, adenine and thymine, the four bases of DNA.

The intentional left handed DNA-like design, which is the opposite of normal DNA on earth, earned it a place in The Left Handed DNA Hall of Fame in 2010 .

Click here for a 360 degree view of Helix Bridge.

helix bridge night

Native American Mitochondrial Haplogroups

Today, what I’m sharing with you are my research notes.  If you follow my blogs, you’ll know that I have a fundamental, lifelong interest in Native American people and am mixed blood myself.  I feel that DNA is just one of the pieces of history that can be recovered and has a story to tell, along with early records, cultural artifacts and oral history.

In order to work with Native American DNA, and the various DNA projects that I co-administer, it’s necessary to keep a number of lists and spreadsheets.  This particular list was originally the first or earliest reference or references to a Native American mitochondrial (maternal line) haplogroup where it is identified as Native in academic papers.  I have since added other resources as I’ve come across them.

For those wondering why I’ve listed Mexican, this article speaks to the very high percentage of Native American mitochondrial DNA in the Mexican population.

Please note that while some of these haplogroups are found exclusively among Native American people, others are not and are also found in Europe and/or Asia.  In some cases, branches are exclusively Native.  In other cases, we are still sorting through the differences.  For haplogroups though to be only Native, I have put any other submission information, which is often from Siberia.

I have labeled the major founding haplogroups, as such.  This graphic from the paper, “Beringian Standstill and the Spread of Native American Founders” by Tamm et al, provided the first cumulative view of the mitochondrial Native founder population.

beringia map

Haplogroups A, B, C, D and X are known as Native American haplogroups, although not all subgroups in each main haplogroup are Native, so one has to be more specific.

Normally, you could presume that if haplogroup A2 is Native, for example, that A2a, downstream of A2, would also be Native, but that’s not always true.  For example, A4 is found in Asia.  A2 is a subset of A4, which you wouldn’t expect, and we believe that haplogroup A4a is actually Native.

The lists below are just that, lists.  If you want to see these in tree fashion, you can visit www.mtdnacommunity.org, click on Phylogeny, click on Expand All, then search on A4, for example.

mtdnacommunity a4

Please note that I am adding information from haplogroup projects at Family Tree DNA.  This information is self-reported and should only be utilized with confidence after confirming the accuracy of the information.

Please note that in earlier papers and projects, not all results may have been tested to the full sequence level, so results in base haplogroups, like A and B, for example, may well fall into subclades with additional testing.

The protocol and logic for adding the Anzick results for consideration, along with other evidence is discussed in this article.  In short, for the 12,500 year old Anzick specimen to match any currently living people at relatively high thresholds, meaning 5cM or over, the living individual would likely have to be heavily Native.  Most matches are from Mexico, Central America and South America.  Many mitochondrial DNA haplogroups are subgroups of known Native groups, but never before documented as Native.  Therefore, the protocol I followed for inclusion was any subgroup of haplogroups A, B, C, D, M or X.  Some individuals are unhappy that some haplogroups were among the Anzick results and that I have not removed them at their request, in particular, M23.  To arbitrarily remove a haplogroup listing would be a breach of the protocol I followed.  Research does not always provide what is expected.  I have includes links to notes where appropriate.

Roberta’s Native Mitochondrial DNA Notes

Haplogroup A

A

A1

A2

  • Native, Beringian Founder Haplogroup – 2008 Achilli
  • Mexican – 2007 Peñaloza-Espinosa
  • Mexican, Achilli, 2008
  • Eskimo – Volodko, 2008
  • Dogrib – Eskimo – Volodko, 2008
  • Apache – Volodko, 2008
  • Mexico and Central America – Eskimo – Volodko, 2008
  • Apache – Volodko, 2008
  • Ache and Guarani/Rio-das-Cobras and Katuana and Poturujara and Surui and Waiwai and Yanomama and Zoro – Fagundes 2008
  • Arsario and Cayapa – Tamm 2007
  • Kogui – Tamm 2007
  • Anzick Provisional Extract, Estes January 2015 – (192 A2s with no subgroup),
  • Inupiat people from Alaska North Slope – Raff 2015 –
  • Ancient remains from Lauricocha cave central Andean highlands – Fehren-Schmitz 2015
  • Gran Chaco, Argentina – Sevini 2014
  • Chumash – Breschini and Haversat 2008
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2a and A2b

  • Paleo Eskimo, identified in only Siberia, Alaska and Natives from the American SW (Achilli 2013)
  • Raff 2015 – Inupiat people from Alaska North Slope

A2a

  • Aleut – 2008 Volodko
  • Eskimo – Volodko, 2008
  • Apache – Volodko – 2008
  • Siberian Eskimo, Chukchi, Dogrib, Innuit and Naukan – Dryomov, 2015
  • Anzick Provisional Extract, Estes January 2015 – (2 A2a)
  • Common among Eskimo, Na-Dene and the Chukchis in northeasternmost Siberia, Athabaskan in SW (Achilli 2013), circumpolar Siberia to Greenland, Apache 48%, Navajo 13%
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2ab

A2ad

A2ac

A2a1

A2a2

A2a3

A2a4

A2a5

A2ab

A2ac

A2ac1

A2ad

A2ae

A2af

A2af1a

A2af1a1

A2af1a2

A2af1b1

A2af2

A2ag

A2ah

A2ai

A2ak

A2al

A2am

A2ao1

A2ap

A2aq

A2b

A2b1

A2c

A2c-C64T

A2d

A2d1

A2d1a

A2d2

A2e

A2f

A2f1

A2f1a

A2f2

A2f3

A2g

A2g1

A2h

A2h1

A2i

A2j

A2j1

A2k

A2k1

A2l

A2m

A2n

A2p

A2p1

A2q

A2q1

A2r

A2r1

A2t

A2u

A2u1

A2u2

A2v

A2v1

A2v1a

A2v1b

A2w

A2w1

A2x

A2y

A2z

A2-C64T

A2-C64&-A189G

A2-C64T-T16111C!

A3

A4

A4a

  • Kumar 2011 – Siberian founder of A2, not found in Americas

A4a1

A4b

A4c

  • Siberian founder of A2, not found in Americas – Kumar 2011

A5

A5a

  • Anzick Provisional Extract, Estes January 2015 – (1 A5a)

A6

A7

A8

A9

A10

A11

A12

A13

Haplogroup B

B

B1

B2

  • Native, Beringian Founder Haplogroup – 2008 Achilli, 2007 Tamm
  • Mexican – 2007 Peñaloza-Espinosa
  • Quecha and Ache and Gaviao and Guarani/Rio-das-Cobras and Kayapo-Dubemkokre and Katuena and Pomo and Waiwai and Xavante and Yanomama – Fagundes 2008
  • Mexican American – Kumar 2011
  • Cayapa and Coreguaje and Ngoebe and Waunana and Wayuu and Coreguaje – Tamm 2007
  • Pima – Ingman 2000
  • Native American – Mishmar 2003
  • Colombian and Mayan – Kivisild 2006
  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Colombia – Hartman
  • Yaqui – FTDNA
  •  Shown with European and Mexican and South American entry in the Haplogroup B project at Family Tree DNA
  • Anzick Provisional Extract, Estes January 2015 – (2 B2)
  • Aancient remains from Lauricocha cave central Andean highlands – Fehren-Schmitz 2015
  • Central Alaska from circa 11,500 before present – 2015, Tackney et al
  • Gran Chaco, Argentina – Sevini 2014 
  • Aymara, Atacameno, Mapuche, Tehuelche in Chile and Argentina, South America – de Saint Pierre, 2012
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a

  • Found just to the south of A2a, widespread in SW and found in one Chippewa clan, one Tsimshian in Canada and tribes indigenous to the SW, Mexico, possibly Bella Coola and Ojibwa, evolved in North America – Achilli 2008 and 2013,
  • Found with Mexican entry and descended from Dorothee Metchiperouata b.c.1695 (Illinois) in the Haplogroup B project at Family Tree DNA
  • Anzick Provisional Extract, Estes January 2015 – (14 B2a)
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1

B2a1a

B2a1a1

B2a1b

B2a2

B2a3

B2a4

B2a4a

B2a4a1

B2a5

B2b

B2b1

B2b2

B2b3

B2b3a

B2c

B2c1

B2c1a

B2c1b

B2c1c

B2c2

B2c2a

B2c2b

B2d

B2e

B2f

B2g

B2g1

B2g2

B2h

B2i2

B2i2a1a

B2i2b

B2i2b1

B2j

B2k

B2l

  • Peuhuenche, Mapuche, Huilliche, Mapuche ARG and Tehuelche Chile and Argentina, South America – de Saint Pierre, 2012

B2m

B2n

B2o

B2p

B2q

B2s

B2t

B2u

B2v

B2w

B2y

B2y1

B2-T16311C!

B4

B4a1a

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Anzick Provisional Extract, Estes January 2015 – (1 B4a1a)

B4a1a1 F

  • Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade.  Goncalves 2013, Polynesian motif,
  • Anzick Provisional Extract, Estes January 2015 – (1 B4a1a1) – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015.
  • Note August 30, 2016 – Te Papa’s archival records dating back to 1883/84 indicate that a Māori skull and a Moriori skull were sent to the National Museum in Rio de Janeiro in the early 1880s. In 2013-14, the findings of DNA research which included samples of Botocudo Indians housed at National Museum in Rio de Janeiro indicated that two of the Botocudo ancestors had typical Polynesian DNA sequences. It seems likely that these two “Botocudo Indians” with Polynesian DNA are the Tupuna (ancestors) that were sent from the Wellington Colonial Museum (now Te Papa) in the 1880s.   

B4a1a1a

  • Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade.  Goncalves 2013, Polynesian motif – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015. See August 30, 2016 note for B4a1a1.

B4a1b

B4a1b1

B4b

B4b1

B4bd

B4c1b

B4f1

B4’5

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Shown as European and East Asian and Mexican and South America and Nicaragua and Guatemaula and Cuba and Pacific Islands and identified as Ho-Chunk and descended from Pistikiokonay Pushmataha, b. 1766 (Choctaw) and Eastern Cherokee and Chickasaw and Creek in the Haplogroup B project at Family Tree DNA
  • Anzick Provisional Extract, Estes January 2015 – (15 B4’5)

B5b2a

B5b3

B2e

  • Gran Chaco, Argentina – Sevini 2014 

B21

  • Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013

Haplogroup C

C

C1

  • Native – 2008 Achilli, 2007 Tamm
  • Mexican – 2007 Peñaloza-Espinosa, Kumar 2011
  • Poturujara – Fagundes 2008
  • Arara do Laranjal and Quechua and Yanomama and Waiwai and Zoro – Fagundes 2008, Native American – Mishmar 2003, Warao – Ingman 2000
  • Anzick Provisional Extract, Estes January 2015 – (25 C1 with no subgroup)
  • Remains from Wizard’s Beach in Nevada– Chatters, 2015
  • Aymara, Atacameno, Mapuche, Huilliche, Kawesqar, Mapuche, Teheulche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1a

C1b

C1b1

C1b1i

  • Gomez-Carbala, 2015, Complete Mito Genome of 500 Year Old Inca Child Mummy

C1b2

C1b2a

C1b3

C1b4

C1b5

C1b5a

  • Hispanic – Parsons
  • Mexican – Kumar

C1b5b

C1b6

  • Yanomama – Fagundes

C1b7

  • Mexican – Kumar
  • Anzick Provisional Extract, Estes January 2015 – (1 C1b7)
  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Mexico, Haplogroup C project at Family Tree DNA
  • Mexico, Mitosearch
  • Rumsen peoples, Monterey Mission, California – Breschini and Hversat
  • Gran Chaco, Argentina – Sevini 2014 
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b7a

C1b8

C1b8a

C1b9

C1b9a

C1b10

C1b11

C1b12

C1b13

  • Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
  • Chilean and Kolla – de Saint Pierre, Dec. 2012
  • Atacameno, Pehuenche, Mapuche, Huilliche, Kawesqar, Mapuche, Tehuelche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b13a

C1b13a1

C1b13b

C1b13c

C1b13c1

C1b13d

C1b13e

C1b14

C1b11

C1ba

C1b-T16311C

C1c

C1c1

C1c1a

C1c1b

C1c2

C1c3

C1c4

C1c5

C1c6

C1c7

C1c8

C1c8-A19254G, C16114T

C1d

C1d-C194T

  • Mexico, and Argentina and Colombia – Perego,

C1d1

  • Indman 2000
  • Rio Grande do Sul, Brazil and Lima, Peru and Buenos Aires and Loreta, Peru and Imbabura, Ecuador and Mestizos in Colombia and Minas Gerais, Brazil and Cajamarca, Peru and Huanucu,Peru and Puca Puca, Peru and Mato Grosso do Sul, Brazil and Chaco, Paraguay and Kolla-Salta and Piura, Peru and Huancavelica, Peru and Corrientes and Los Lagos, Chile and Oklahoma and Kuna Yala, Panama and Darien, Panama and Puerto Cabezas, Nicaragua and Eduador and Uruguay and Nicaragua – Perego 2010
  • Fagundes 2008
  • Tamm, 2007
  • Coreguaje – Tamm
  • Warao – Ingman
  • American – Kivisild
  • Hispanic – Parsons
  • Brazil – Rieux
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1a

C1d1a1

C1d1b

C1d1b1

C1d1c

C1d1c1

C1d1d

C1d1e

C1d2

C1d2a

C1d3

C1d-C194T

C2

  • Mexican – 2007 Peñaloza-Espinosa

C2b

C4

  • 2007 Tamm
  • Anzick Provisional Extract, Estes January 2015 – (4 C4 with no subgroup)
  • Chippewa – White Earth Reservation, Minnesota – private test at 23andMe
  • Inupiat people from Alaska North Slope – Raff 2015
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4a

C4a1

C4b

C4c

Beringian Founder Haplogroup – 2008 Achilli

C4c1

C4c1a

C4c1b

C4c2

C4e

Haplogroup D

D

D1

  • Native, Beringian Founder Haplogroup – 2008 Achilli
  • Coreguaje – 2007 Tamm
  • Mexican – 2007 Peñaloza-Espinosa
  • Mexican American – Kumar 2011
  • North American – Henstadt 2008 and Achilli 2008
  • Katuena and Poturujara and Surui and Tiryo and Waiwai and Zoro and Gaviao and Guarani/Rio-das-Cobras  – Fagundes 2008
  • Guarani – Ingman 2000
  • Native American – Mishmar 2003
  • Guarani and Brazilian and Que Chia and Pima Indian – Kivisild 2006
  • British Colombia found in the Haplogroup D project at Family Tree DNA
  • Anzick Provisional Extract, Estes January 2015 – (59 D1)
  • D1 from 12,000-13,000 skeletal remains found in the Yukatan, Chatters et al 2014, Chatters et al 2015
  • Gran Chaco, Argentina – Sevini 2014
  • Chumash, Rumsen, Yokuts, Tubatulabal, Mono, Gabrielino – Breschini and Haversat 2008
  • Aymara, Atacameno, Huilliche, Kawesqar, Mapuche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1a

D1a1a1

D1a2

D1b

D1c

D1d

D1d2

D1f

D1f1

D1f2

D1f3

D1g

  • Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
  • Aymara, Pehuenche, Mapuche, Huilliche, Mapuche, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
  • New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g1

D1g1a

D1g2

D1g2a

D1g3

D1g4

D1g5

D1g6

D1h

D1i

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1i2

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j

  • Gran Chaco, Argentina – Sevini 2014 

D1j1a

  • Gran Chaco, Argentina – Sevini 2014 
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j1a1

  • Gran Chaco, Argentina – Sevini 2014 

D1k

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1m

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2

  • Aleut, Commander Islands and Eskimo, Siberia – 2002 Derbeneva
  • 2007 Tamm
  • Mexican – 2007 Peñaloza-Espinosa
  • Tlingit, Commander Island – Volodko 2008
  • Inupiat people from Alaska North Slope, ancient Paleo-Eskimos – Raff 2015
  • Miwok – Breschini and Haversat 2008
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a

  • NaDene – 2002 Derbeneva
  • 2008 Achilli
  • Eskimo in Siberia – Tamm 2007
  • Late Dorset ancient sample, Tlingit (Commander Island) – Dryomov 2015
  • Inupiat people from Alaska North Slope – Raff 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1

  • Aleut Islanders and northernmost Eskimos, Saqqaq Ancient sample, Middle Dorset ancient sample – Dryomov 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1a

  • Aleut – 2008 Volodko
  • Aleut – Dryomov 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017
  • Commander Islands – 2008 Volodko (100%)

D2a1b

  • Sireniki (Russian) Eskimo – Dryomov 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a2

  • Chukchi – Derenko, Ingman, Tamm and Volodko
  • Eskimo – Tamm and Volodko
  • Siberia – Derbeneva
  • Eskimos and Chikchi – Dryomov 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2b

  • 2007 Tamm
  • Aleut 2002
  • Derbeneva, Russia – Derenko
  • Siberian mainland cluster – Dryomov 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2c

  • Eskimo – 2002 Derbeneva
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D3

  • Inuit – 2008 Achilli
  • 2007 Tamm
  • Inupiat people from Alaska North Slope (noted as currently D4b1a) – Raff 2015
  • Ancient Neo-Eskimos, Kitanemuk, Kawaiisu – Breschini and Haversat 2008
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D3a2a

  • Greenland – 2008 Volodko

D3a2a

  • Canada – 2008 Volodko

D4

  • 2007 Tamm
  • Anzick Provisional Extract, Estes January 2015 – (2 D4)
  • Chumash – Breschini and Haversat 2008
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b1

  • Anzick Provisional Extract, Estes January 2015 – (1 D4b1)

D4b1a

  • Inupiat people from Alaska North Slope (noted as formerly D3), ancient Neo-Eskimos – Raff 2015
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b2a2

  • Anzick Provisional Extract, Estes January 2015 – (1 D4b2a2)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1

  • Mexican American – Kumar 2011
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1a1

  • Anzick Provisional Extract, Estes January 2015 – (1 D4e1a1)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1c

  • Kumar 2011 – found in Mexican Americans (2 sequences only)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4g1

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a1

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a2

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3

  • Beringian Founder Haplogroup – 2008 Achilli
  • 2007 Tamm
  • Anzick Provisional Extract, Estes January 2015 – (1 D4h3)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a

  • Mexican American – Kumar 2011
  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Anzick Provisional Extract, Estes January 2015 – (2 D4h3a)
  • Raff and Bolnick, Nature February 2014 – Anzick’s haplogroup
  • Remains from On Your Knees Cave in Alaska, Chatters, 2015
  • Gran Chaco, Argentina – Sevini 2014 
  • Aymara, Mapuche, Huilliche, Kawesqar, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a1a

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a1a1

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a2

  • Gran Chaco, Argentina – Sevini 2014 

D4h3a6

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a7

  • Ciu 2013 – British Columbia – may be extinct
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a8

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4j

  • Anzick Provisional Extract, Estes January 2015 – (2 D4j)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4j8

  • Gran Chaco, Argentina – Sevini 2014 

D5

D5a2a

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D5b1

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

D6

D7

D8

D9

D10

Haplogroup F

F1a1

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Mexico in American Indian Project

Haplogroup M

M

  • Discovered in prehistoric sites, China Lake, British Columbia – 2007 Malhi
  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

M1

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017- Probably Native

M1a

M1a1b

  • Anzick Provisional Extract, Estes January 2015 – (1 M1a1b)

M1a1e

  • USA – Olivieri
  • Many Eurasian in Genbank

M1b1

M2a3

  • Anzick Provisional Extract, Estes January 2015 – (1 M2a3)

M3

M5b3e

M7b1’2

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Anzick Provisional Extract, Estes January 2015 – (1 M7b1’2)

M9a3a

M18b

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

M23

M30c

M30d1

  • Anzick Provisional Extract, Estes January 2015 – (1 M30d1)

M51

Haplogroup X

X

  • A founding lineage – found in ancient DNA Washington State –  2002 Malhi
  • 2007 Tamm
  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a

X2a1

  • Chippewa – Fagundes
  • Ojibwa – Achilli and Perego
  • Canadian Ojibwa – Rieux
  • Indian Territory – American Indian project at Family Tree DNA
  • Estes X2a (2016)
  • Virginia, Manitoba, Manitolin Island on the border between the US and Canada – Haplogroup X Project at Family Tree DNA
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Sioux and USA – Perego
  • Anzick Provisional Extract, Estes January 2015 – (1 X2a1a)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a1

  • Jemez and Siouian – Fagundes
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b

  • Western Chippewa – Fagundes
  • USA and Obijwa – Perego
  • Edmonton, Alberta and Selkirk, Manitoba – Haplogroup X Project at Family Tree DNA
  • Estes X2a (2016)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1

  • USA – Perego
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1a

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Western Chippewa and Chippewa – Fagundes
  • Anzick Provisional Extract, Estes January 2015 – (2 X2a1b1a)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1c

  • Western Chippewa – Fagundes
  • USA – Perego
  • La Pointe, Wisconsin and St. Ignace, Michigan – Haplogroup X Project at Family Tree DNA
  • Estes X2a (2016)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a2

  • Navajo – Mishmar
  • USA – Perego
  • Anzick Provisional Extract, Estes January 2015 – (1 X2a2)
  • Manawan in Quebec, Newfoundland Island, Cape Breton, Nova Scotia, Newfoundland and Labrador – Haplogroup X Project at Family Tree DNA
  • Estes X2a (2016)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b

  • European – note that 2008 Fagundes removed a sample from their analysis because they believed X2b was indeed European not X2a Native
  • Anzick Provisional Extract, Estes January 2015 – (2 X2b)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b-T226C

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Anzick Provisional Extract, Estes January 2015 – (1 X2b-T226T confirmed Irish, not Native)

X2b3

  • America – Kivisild

X2b4

X2b7

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Not Native

X2c

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c1

  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c2

X2d

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017- probably not Native

X2e1

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Behar notes two submissions at mtdnacommunity that are likely European
  • 2 confirmed X2e1 from Valcea , Romania at Family Tree DNA
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2e2

  • Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
  • Anzick Provisional Extract, Estes January 2015 – (1 X2e2)
  • Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2g

  • Identified in single Ojibwa subject – Achilli 2013
  • Ojibwa – Perego

X2e

  • Altai people, may have arrived from Caucus in last 5000 years

X2e1

X6

  • Found in the Tarahumara and Huichol of Mexico, 2007 Peñaloza-Espinosa

MtDNA References

Reconciling migration models to the Americas with the variation of North American native mitogenomes, Alessandro Achjilli et al, PNAS Aug. 2013, http://www.pnas.org/content/early/2013/08/08/1306290110.full.pdf+html

The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies, Achilli et al, PLOS, March 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0001764

Mitochondrial genome diversity in arctic Siberians with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americans, Natalia Volodko, et al, American Journal of Human Genetics, June 2008  http://www.ncbi.nlm.nih.gov/pubmed/18452887

Decrypting the Mitochondrial Gene Pool of Modern Panamanians, Ugo Perrego, et al, PLOS One, June 2012, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0038337

Ancient DNA Analysis of Mid-Holocene Individuals from the Northwest Coast of North America Reveals Different Evolutionary Paths for Mitogenomes, Yinqui Ciu et al, PLOS One, July 2013  http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0066948

Beringian Standstill and Spread of Native American Founders, Erika Tamm et al, PLOS One, September 2007, http://www.plosone.org/article/info:doi/10.1371/journal.pone.0000829

Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia, Olga Derbeneva et al, American Journal of Human Genetics, June 2002, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379174/

Mitochondrial haplogroup M discovered in prehistoric North Americans, Ripan Malhi et al, Journal of Archaeological Science 34 (2007), http://public.wsu.edu/~bmkemp/publications/pubs/Malhi_et_al_2007.pdf

Brief Communication: Haplogroup X Confirmed in Prehistoric North America, Ripan Malhi et al, American Journal of Physical Anthropology, 2002, http://deepblue.lib.umich.edu/bitstream/handle/2027.42/34275/10106_ftp.pdf

Mitochondrial DNA and the Peopling of the New World, Theodore Schurr, American Scientist, 2000, http://www.sas.upenn.edu/~tgschurr/pdf/Am%20Sci%20Article%202000.pdf

A Reevaluation of the Native American MtDNA Genome Diverstiy and Its Bearing on the Models of Early colonization of Beringia, Fagundes et al, PLOS One, Sept. 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0003157

High Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of native American Y Chromosomes into the Americas, Zegura et al, Oxford Journals, 2003, http://mbe.oxfordjournals.org/content/21/1/164.full.pdf

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, Congress of the European Society for Evolutionary Biology, October 2011, http://www.biomedcentral.com/1471-2148/11/293

Mitochondiral genome variation and the origin of modern humans, Ingman et al, Natuer 2000, http://www.nature.com/nature/journal/v408/n6813/full/408708a0.html

Characterization of mtDNA Haplogroups in 14 Mexican Indigenous Populations, Human Biology, 2007

Achilli A, Perego UA, Bravi CM, Coble MD, et al. (2008) The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies. PLoS ONE 3(3): e1764. doi:10.1371/journal.pone.0001764 http://www.plosone.org/article/info:doi/10.1371/journal.pone.0001764

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, 2011, Evolutionary Biology, http://www.biomedcentral.com/1471-2148/11/293/

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America – Dryomov et al, European Journal of Human Genetics, 2015  http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014286a.htm

Identification of Polynesian mtDNA haplogroup in remains of Botocudo Americndians from Brazil, Goncalves et al, 2013, PNAS  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631640/

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans” by James Chatters et al, May 2014, Science

Mitochondrial diversity of Iñupiat people from the Alaskan North Slope provides evidence for the origins of the Paleo- and Neo-Eskimo peoples by Raff et al, (April 17, 2015) American Journal of Physical Anthropology  http://onlinelibrary.wiley.com/doi/10.1002/ajpa.22750/
http://www.eurekalert.org/pub_releases/2015-04/nu-dsa042715.php

Genetic roots of the first Americans, Raff and Bolnick, (February 2014), Nature

MtDNA Haplogroup A10 Lineages in Bronze Age Samples Suggest That Ancient Autochthonous Human Groups Contributed to the Specificity of the Indigenous West Siberian Population by Pilipenko, et al, PLOS One, 2015

Ancestry and affiliations of Kennewick Man by Rasmussen et al, Nature, June 18, 2015

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern native Americans by Chatters, et al, Science, Vol 244, May 16, 2014

A Reappraisal of the early Andean Human Remains from Lauricocha in Peru by Fehren-Schmitz et al, PLosS ONE 10 (6)(2105)

Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil, by Malaspinas et al, Current Biology, November 2014

Botocudo Ancient Remains from Brazil, by Roberta Estes, July 2015

Two contemporaneious mitogenomes from terminal Pleistocene burials in eastern Beringia, Tackney et al, 2015, PNAS

The complete mitogenome of 500-year old Inca child mummy, 2015, Nature, Gomez-Carbala et al

Does Mitochondrial Haplogroup X Indicate Ancient Trans-Atlantic Migration to the Americas? A Critical Re-Evaluation, 2015, PubMed, Raff and Bolnick

Native American Haplogroup X2a – Solutrean, Hebrew or Beringian?, 2016, Estes

X2b4 is European, Not Native American, Estes, September 2016

‘Human mitochondrial genomes reveal population structure and different phylogenies in Gran Chaco (Argentina)’ by Sevini, F., Vianello, D., Barbieri, C., Iaquilano, N., De Fanti, S., Luiselli, D., Franceschi, C. and Franceschi, Z., sequences submitted to GenBank in January 2016 from 2014 unpublished paper

Archaeogenomic evidence reveals prehistoric matrilineal dynasty by Kennett et al, 2017, Nature Communications

Ancient DNA – Modern Connections: Results of Mitochondrial DNA Analyses from Monterey County, California by Gary Breschini and Trudy Haversat published in the Pacific Coast Archaeological Society Quarterly, Volume 40, Number 2, (written 2004 although references are later than 2004, printed 2008)

An Alternative Model for the Early Peopling of Southern South America Revealed by Analyses of Three Mitochondrial DNA Haplogroups, de Saint Pierre et al, 2012, PLOS

New Native American Mitochondrial Haplogroups by Roberta Estes, March 2, 2017

Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes, de Saint Pierre et al, Dec. 2012, PLOS

  • Updated September 26, 2014
  • Updated December 6, 2014 – Anzick data, please note that I only added extracted information for haplogroups where no academic publication had previously identified the haplogroup as Native
  • Updated December 7, 2014 – GenBank submissions utilizing Ian Logan’s GenBank by Haplogroup Program and Haplogroup A, A2, A4, B, C, D, M and X projects at Family Tree DNA
  • Updated January 2, 2015 – added kit numbers to 2014 Anzick extracted data
  • Updated January 8, 2015 with haplogroups from Dryomov et al, Chatters et al
  • Updated January 9, 2015 with Anzick extraction, including the number of results for each haplogroup.  In the previous Anzick extraction, I only added haplogroups that were not identified previously in academic papers.  In this extraction, I included all haplogroup A. B, C, D, M and X that were not excluded based on e-mail communications with kit owners that would exclude their results based on their family genealogy or geography.
  • Updated April 29, 2015 with results of 2015 Raff study, Estes, Haplogroup A4 Unpeeled study, Raff and Bolnick 2014 and a few private test results
  • Updated May 20, 2015 with A10 results from Pilipenko 015
  • Updated June 19, 2015 with Kennewick Man and results from Chatters paper
  • Updated June 30, 2015 with Fehren-Schmitz paper
  • Updated July 4, 2015 with Malaspinas paper regarding full genome sequencing of Botocudo
  • Updated July 12, 2015 haplogroup C1b7 and C1b7a information
  • Updated November 11, 2015 with Tackney, 2015 and Gomez-Carbala, 2015, information
  • Updated February 2, 2015, X2a Estes paper and C4c1 American Indian Project
  • Updated August 30, 2016 Botocudo Remains
  • Updated September 14, 2016, haplogroup X2b4
  • Updated January 16, 2017 with Sevini’s haplogroups from Gran Chaco, Argentina
  • Updated February 25, 2017 with Kennett’s B2y1 haplogroup from Kennett’s paper
  • Updated February 28, 2017 Monterey, California burials by Breschini and Haversat
  • Updated March 3, 2017 with de Saint Pierre, 2012
  • Updated March 3, 2017 to bulletized format
  • Updated March 3, 2017 with New Native American Mitochondrial DNA Haplogroups by Estes

Please note that submissions styled with the researcher’s surname and no paper date, such as “Chippewa – Perego” are from GenBank submissions and are listed as recorded at GenBank.

Why DNA Test?

puzzle pieces

Sometimes I receive a question that just stops me in my tracks.  This past week, when a very experienced genealogist ask me “Why do you guys DNA test anyway?,” I was so dumbstruck as to be almost speechless.  Well, almost, but not quite, and I recovered quickly.

I did manage to stifle the urge to say “because we can,” but there would have been some truth in that statement.

For me, DNA testing is just a fact of life, ingrained into every molecule of my being, so I had to think a bit before answering.

Why do we do this anyway???

  1. Because we can!  Ok, I just had to say it, to get it out of my system.  But in reality, it’s true, because you don’t know what you don’t know.  And it’s low hanging fruit.  For between $49 and $99, at Family Tree DNA you can take a multitude of tests, but primarily  Y DNA, mitochondrial DNA and autosomal.  And with that, you can find out what it is that you don’t know.  The story of “Finding Anne Marie” is the perfect example. In fact, it has been turned into a book.
  2. We test to discover if we are related paternally (Y-DNA) to others of the same or similar surnames.  This also means that we can eliminate researching any lines that you don’t match.  So we do it so we can stop barking up the wrong tree, and hopefully, bark up the right one.  This article about Triangulation for Y DNA talks about surname matching.  This paternal Y test was one of the first and is still probably the primary DNA genealogy test done today.
  3. We can test relationship theories.  For example, let’s say that we don’t know who the father of our ancestor is, but there are 4 male candidates, all brothers, in the county at the time our ancestor was born.  Certainly, being rabid genealogists, we’ve already done the genealogy work, like check tax records, census schedules, church records and anything local, but now we need big guns because those resources didn’t reveal parentage.   This story about the Perez family in Guam and in Hawaii illustrates this beautifully and uses both Y DNA in combination with autosomal.  In the case of the 4 brothers above, we can search for their wives surnames in our matches and see if we can identify which couple by using the wive’s lines’ DNA.
  4. We test to find out about our ancient ancestry.  What “clan” or haplogroup did we come from?  There are a number of tests we can take to discover if we are Native American, for example, or African.  Some tests, like the autosomal tests, look back only a few generations, so they are broad, not deep, and some, like the Y and mitochondrial tests are very deep, going back hundreds of generations, but not broad at all, focusing like a laser beam on only that one specific direct line.  This article about “Proving Native American Ancestry Using DNA” tells about the various kinds of tests and how they can help with genealogy.
  5. We test to create a DNA pedigree chart that parallels and integrates with our genealogy pedigree chart.  Every ancestor and their DNA has an ancient story to tell that would be silenced without DNA.  In essence, we recover ancestry otherwise lost to us. How else would you ever find out that you descend from Vikings or Niall of the 9 Hostages?
  6. We test to better understand our genesis.  For example, we want to map our chromosomes to know which one came from which ancestor.  Ok, maybe number 6 only applies to geeky genealogists – but there appear to be a lot of us out there.  Kitty Cooper’s new mapping tool is quite popular.
  7. We test to find our family.  Just today, I “met” a cousin I match autosomally  and we discovered that we have some of the same “coureur du bois” stories in our Acadian families.  The difference is that she knew what they were, and I didn’t.  Click – that’s the sound of a puzzle piece falling into place.
  8. Some people test to prove paternity, or find biological parents or siblings.  Over the past couple of years, several great adoption tools and groups have been formed as we’ve learned to work more effectively with autosomal DNA.
  9. We test because it’s fun.  It adds another dimension and several more tools to the addiction we love, genealogy.
  10. Some test to discover more about their health traits.  For some, this health information is just a side benefit, but you never know when that health information will have a profound influence on your life.
  11. Some people want to participate in scientific research.  This is probably not a primary reason to test, but it does motivate a lot of people and this is one field where an individual can still actively participate and make a difference, sometimes a huge difference.
  12. Some people, like Lenny Trujillo, want to leave a legacy and what a legacy he has left.  This is one of the most common reasons people order the Personalized DNA Reports.  In some cases, their DNA line ends with them, but in others, it’s a way of leaving information for future generations.  Many people have these reports bound and give them as family-wide gifts.
  13. We test because we want to find the location in Europe, or wherever “the old country” is for our family, that our immigrant ancestors came from.  The Speaks family is a great example.  The American group had tested and confirmed the DNA of the original immigrant, but we didn’t know where the Speaks family came from, although we believed they immigrated from England.  Another Speaks family member, from Australia, tested, and matched the American group.  The difference was that our Australian cousin knew exactly where his English ancestor was from.  Through DNA testing, we found the home of our Speaks family in Gisburn, Lancashire, England.  You can read about it in “The Speak Family – 3 Continents and a Dash of Luck.”
  14. We want to prove or disprove our oral history.  In many cases, that history includes some type of minority admixture.  By minority, I mean not our primary ethnicity.  In the series, “The Autosomal Me,” I described in agonizing detail how to use tiny bits of DNA to do just that, and to identify which family lines contributed that minority admixture.  In my case, both Native and African.  Native had always been a part of our family’s oral history, but the African was initially a surprise.
  15. We test because we’re curious about where we came from, who we are related to, what they know about our ancestors that we might not.  As I’ve said before, “It’s About the Journey.”  Inquiring minds want to know…..

Now, aren’t you sorry you asked???

First Iceland, Now the Faroe Islands

Faroe island capital

Sometimes it takes a crisis or a tragedy to spur a revolution.  That’s what has happened in the Faroe Islands.

In the 1990s, deCODE Genetics began the process of creating the world’s first population-wide biobank of genetic information by collecting the DNA of all residents of a confined geographic population.  They approached the Faroe Island, which at that time declined, and deCODE went on to proceed with the population of Iceland.  Unfortunately, deCODE eventually declared bankruptcy and was recently purchased, but the genomics revolution had begun and continues, ironically, in the Faroe Islands.

In Discovery Magazine’s recent article, “Faroe Island Aim to Sequence Genes of Entire Country,” they detail the plans for sequencing the genes of the entire population of 50,000 Faroe Islanders.

Faroe islands

Because of the isolation of the island, in the north Atlantic between Norway and Iceland, the residents have been marrying each other for generations, creating a highly endogamous population.  With few new genes being introduced, the existing genes get passed around, and around, and around.  This causes a very high incidence of some genetically transmitted diseases, and little known CTD, or carnitine transporter deficiency, is among them.

This genetic timebomb is also what spurred the Faroes to action, after the death of a young man, Edmund Jensen, and his family members, from this genetic mutation.

Termed FarGen, this project is leading the way on many fronts.  Questions of ethics, of responsibility, of liability and of privacy will all have to be addressed as this project unfolds, but the project holds the potential for life-changing discoveries on the medical front that will benefit not only Faroe Islanders, but many of the rest of us too.

Epigenetics – Forgotten Perhaps, But Not Gone

Recently, an extremely interesting article about epigenetics appeared in Discover magazine titled “Grandma’s Experiences Leave a Mark on Your Genes.”  The tag line says that your ancestors’ lousy childhood or excellent adventures might change your personality, bequeathing anxiety or resilience by altering the epigenetic expression of genes in the brain.  Wow!

Those of us who work with genetics on a daily basis are used to looking at inheritance, pure and simple, DNA, STRs, SNPs, RNA and mitochondrial DNA.  Nothing more, nothing less.  All straightforward, right?

Epigenetics changes all that….or so we think…but how?

In 1992, two researchers, Moshe Szyf and Michael Meaney, one a molecular biologist and one a neurobiologist met at a conference, had a beer, and from there, epigenetic history has been made.

Epigenetics has to do with changes to molecular structure after the birth of a child – changes that can alter the function of DNA, which can alter you – many parts of you. It can make you susceptible to diseases and alter your personality, genetically.  This is in direct conflict with what we thought we knew.

Until epigenetics, the basic story line on how genes get transcribed in a cell was neat and simple. DNA is the master code, residing inside the nucleus of every cell; RNA transcribes the code to build whatever proteins the cell needs. Then epigenetic research showed that methyl groups could attach to cytosine, one of the chemical bases in DNA and RNA, much like a clinging vine.  Cytosine is one of the 4 nucleotides of DNA, the most basic building blocks.

epigenetic factors

The methyl groups could become married permanently to the DNA, getting replicated right along with the DNA through a hundred generations, but how?

The attachment of the methyl groups significantly altered the behavior of whichever gene they wed, inhibiting its transcription. It did so by tightening the thread of DNA as it wrapped around a molecular spool, called a histone, inside the nucleus. The tighter it is wrapped, the harder to produce proteins from the gene.

Think about what this means.  Without a mutation to the DNA code itself, the attached methyl groups cause long-term, inherited change in gene function. Other molecules, called acetyl groups, were found to play the opposite role, unwinding DNA around the histone spool, and so making it easier for RNA to transcribe a given gene.

It was found that this is particularly pronounced in the situation where mothers are either highly attentive or neglectful of their offspring.

Next came experiments on rats.  Szyf and Meaney began by selecting mother rats who were either highly attentive or highly inattentive. Once a pup had grown up into adulthood, the team examined its hippocampus, a brain region essential for regulating the stress response. In the pups of inattentive mothers, they found that genes regulating the production of glucocorticoid receptors, which regulate sensitivity to stress hormones, were highly methylated; in the pups of conscientious moms, the genes for the glucocorticoid receptors were rarely methylated.

Methylation just gums up the works. So the less the better when it comes to transcribing the affected gene. In this case, methylation associated with miserable mothering prevented the normal number of glucocorticoid receptors from being transcribed in the baby’s hippocampus. And so for want of sufficient glucocorticoid receptors, the rats grew up to be nervous wrecks.

Even more surprising, in subsequent experiments, when they infused their brains with trichostatin A, a drug that can remove methyl groups, these animals showed none of the behavioral deficits usually seen in such offspring, and their brains showed none of the epigenetic changes.  In effect, an eraser.

This information not only was revolutionary, it was highly resisted within the scientific community.  In the end, their landmark paper, “Epigenetic programming by maternal behavior,” was published in June 2004 in the journal Nature Neuroscience.

Meaney and Szyf had proved something incredible. Call it postnatal inheritance. With no changes to their genetic code, the baby rats nonetheless gained genetic attachments due solely to their upbringing — epigenetic additions of methyl groups sticking like umbrellas out the elevator doors of their histones, gumming up the works and altering the function of the brain.  Bad news.

Another scientist found that inattentive mothering in rodents causes methylation of the genes for estrogen receptors in the brain. When those babies grow up, the resulting decrease of estrogen receptors makes them less attentive to their babies.  Generational neglect.

Think about what this means for people, for you, for your ancestors.  Think about the potential effects of extreme stress, like the holocaust, for example, on the children born to those who survived.

Since the landmark, barrier-breaking 2004 paper, more than 2 dozen papers on this topic have been published.  And as you might guess, research on humans has begun as well.

In a 2008 paper, scientists compared the brains of people who had committed suicide with the brains of people who had died suddenly of factors other than suicide. They found excess methylation of genes in the suicide brains’ hippocampus, a region critical to memory acquisition and stress response. If the suicide victims had been abused as children, they found, their brains were more methylated.

What constitutes stress?  It turns out that economic stress factors can affect epigenetics too.  In 2011 Szyf reported on a genome-wide analysis of blood samples taken from 40 men who participated in a British study of people born in England in 1958.

All the men had been at a socioeconomic extreme, either very rich or very poor, at some point in their lives ranging from early childhood to mid-adulthood. In all, Szyf analyzed the methylation state of about 20,000 genes. Of these, 6,176 genes varied significantly based on poverty or wealth. Most striking, however, was the finding that genes were more than twice as likely to show methylation changes based on family income during early childhood versus economic status as adults.

Timing, in other words, matters. Your parents winning the lottery or going bankrupt when you’re 2 years old will likely affect the epigenome of your brain, and your resulting emotional tendencies, far more strongly than whatever fortune finds you in middle age.

The message here is that epigenetic changes seem to be more pronounced in the very young, infants of nonnurturing mothers, and children, as opposed to older adults.

Epigenetic changes seem to be inherited by children.  If this is true, then how does this happen and is it measureable?  In terms of genetic genealogy, these epigenetic changes might be able to be attributed to a particular ancestor, say, a Revolutionary War or Civil War solder, perhaps.

Would there be any way to tell where the epigenetic change came from, which ancestor?  Is this trackable genealogically, and would it be beneficial to ancestor identification?

And if it’s true that certain drugs, an epigenetic elixir of sorts, can remove methyl groups and effectively wipe the slate clean, would we want to do that?  Would it in effect erase the family curse of, say, serial alcoholism or mental illness. Are there benefits that we aren’t aware of or could too much be wiped out?  How would that affect memories, like Post Traumatic Stress Disorder?  Would a terrible memory be turned into something less terrible or at least manageable?  Would our perspective of what happened to us change?  Would our outlook on life change?  Would we become an optimist if we are a pessimist?  Could it cure depression?

This information also makes me wonder why we aren’t all blithering piles of goo?  None of us has escaped a lineage with a terrible event. In my own line, I have an alcoholic grandfather, a grandmother who abandoned her kids, a Civil War veteran who was a POW, a War of 1812 veteran, a Revolutionary War veteran who was with George Washington that terrible winter, and that’s just one quick glance up one line on my tree.  What protects us from the accumulated epigenetic tangle?  Something must be at play here, protecting us in some way, because we can still function.

Let’s look at the other side of that coin.  Until we figure out how to cure epigenetic trauma and its effects on our DNA, could we harvest the information from this new world of clinging vine DNA for genetic genealogy?

Please do take time to read the original Discovery article.  I have excerpted parts of it here, but it’s very detailed and describes the discovery process and subsequent proofs in much greater detail.  Epigenetics is likely the next frontier in genetics, and it has already arrived.  I have to wonder if it has a place in genetic genealogy as well.