Mothers, Daughters, and mtDNA

Ever thought about having your DNA analyzed? About a year ago, I became interested in The Genographic Project after reading Spencer Wells’ “Deep Ancestry: Inside the Genographic Project” (National Geographic, 2006). Spencer Wells is an Explorer-in-Residence at the National Geographic Society and Frank H. T. Rhodes Class of ’56 Professor at Cornell University. He leads The Genographic Project, which collects and analyzes hundreds of thousands of DNA samples from people around the world in order to decipher how our ancestors populated the planet.

My great great grandmother.

The project began with researchers collecting field research data in collaboration with indigenous and traditional peoples around the world. The thought is that these people have the most “pure” DNA, for lack of a better word, because their people didn’t migrate and their DNA stayed relatively the same. Then they invited the general public to join the project by purchasing Genographic Project Public Participation Kits. The proceeds from Genographic Public Participation Kit sales go towards further field research and the Genographic Legacy Fund which in turn supports indigenous conservation and revitalization projects. The Project is anonymous, non-medical, non-profit and all results are placed in the public domain following scientific peer publication.

I purchased a participation kit last year from National Geographic for about $100. The kit arrived by mail and contained little test tubes, swabs, and an identification code that I had to save so that I could log into their website at a later date and see my results. So I swabbed the inside of my cheek and sent in my samples. It took three or four weeks before my results were posted. Here’s what I learned:

My great grandmother and her maternal cousin. Same mtDNA.

DNA goes through what is called recombination, or a “reshuffling,” before it is passed on to offspring. Geneticists use non-combining portions of the human genome to trace deep ancestry. Y chromosomal DNA is passed from father to son. Mitochondrial DNA (mtDNA) is passed from mother to daughter. (Mothers also pass their mtDNA on to their sons, but their sons in turn do not pass it on.) The Y chromosome (in males) and mtDNA (in females) remains the same, except when there is a mutation. Every once in a while a mutation occurs in the DNA sequence that becomes a genetic marker, or signpost.. National Geographic likens it to a spelling mistake: one of the letters in your sequence may change from a C to a T, or from an A to a G.

Here is the story, according to The Genographic Project, of my mtDNA. I descend from who anthropologists call Mitochondrial Eve. She lived in eastern Africa around 170,000 years ago. In fact, all people alive today can trace their lineage back to her. She was not the first woman, however. The first homo sapiens appeared around 200,000 years ago. What happened to the others? They went extinct for one reason or another.  Maybe the other women had sons.  Maybe there was a natural disaster – volcanic eruption, flood,or  famine. Somehow Mitochondrial Eve survived and became the mother of all humans alive today. So you see – we’re all related!

This is what my mtDNA mutations look like: L1/L0 > L2 > L3 > N > R > T. I’ll present what I believe to be the significant highlights along the journey. Mutation L3 occurred about 80,000 years ago. They were the first modern humans to leave Africa, representing the deepest branches of the human family tree outside of Africa. N represents a group that moved north across the Sinai Peninsula along the Nile River basin into the eastern Mediterranean area as well as western Asia. T has wide distribution and is present as far east as the Indus Valley bordering India and Pakistan as far south as the Arabian Peninsula. It is also common in eastern and northern Europe. Ah ha – a signpost I recognize! 

My grandmother.

Specifically, I’m part of Haplogroup T, Subclade 2 (or T2), which is one of the older sub-lineages and may have been present in Europe as early as the Late Upper Palaeolithic.

Haplogroup T is currently found with high concentrations around the eastern Baltic Sea. According to Oxford Ancestors, Haplogroup T “includes slightly fewer than 10% of modern Europeans. Its many branches are widely distributed throughout southern and western Europe with particularly high concentrations in Ireland and the west of Britain.”  Makes sense – my recent (250-300 years) ancestors came from England and/or Scotland.

The last Russian Tsar, Nicholas II, has been shown to be of Haplogroup T, specifically subclade T2. This was established when genetic testing was done on his remains to authenticate his identity. Assuming all relevant pedigrees are correct, this includes all female-line descendants of his female line ancestor Barbara of Celje (1390-1451), wife of Sigismund, Holy Roman Emperor. This includes a great number of European royalty including George I of Great Britain, George V of the United Kingdom, Charles X Gustav of Sweden, Gustavus Adolphus of Sweden, Maurice of Nassau, Prince of Orange, Olav V of Norway, and George I of Greece. The American outlaw Jesse James has also been shown to be of subclade T2. Fascinating stuff!

My mother.

Are you an amateur genealogist? Want to learn more about the free tools available to you locally? Peachtree City Library will be offering a  program on Tuesday, October 18th, at 7 p.m. called “We’re Relatives – Genealogy & Writing.” While we won’t be swabbing for DNA, attendees will learn the basics of genealogical research and how they can use their research to write family history, memoir, and historical fiction and non-fiction.

The program is free and open to the public.

Jill Prouty

Jill is a reader, writer, and professional librarian who enjoys spending her free time with her husband of twelve years and their two sons. She has an MSLS from Clarion University of Pennsylvania and a BA from the University of Nebraska-Lincoln.