The Genetic Genealogist

Whoopi Goldberg, like many others, is turning to DNA testing to learn more about her ancestry. Goldberg participated in the PBS program African American Lives which used DNA testing in conjunction with traditional genealogical research methods to elucidate the genealogy of famous African Americans (including, among others, Goldberg, Oprah Winfrey, and Dr. Mae Jamieson). The results of Goldberg’s mtDNA testing has revealed that her maternal line descends from the Papel and Bayote tribes who are found in the tiny West African Nation of Guinea-Bissau. Her admixture test suggested that her ancestry was 92% sub-Saharan African and 8% European. As with all DNA testing, Goldberg’s results only examined a small fraction of her actual ancestry.

After hearing of the results of the test, the government of Guinea-Bissau held a high level meeting and wrote her a letter that ended with a request to visit their country. The letter was hand-delivered to the U.S. Embassy and forwarded to the State Department in Washington for delivery to Goldberg. Goldberg’s publicist Brad Cafarelli, in an e-mail to the Associated Press, wrote that Goldberg has yet to receive the letter.

MITOMAP, the human mitochondrial genome database, has recently published a paper in Nucleic Acids Research (Free Full Text Here) announcing the completion of a full human mtDNA phylogenetic tree.

This tree, available here(pdf) was constructed from 2959 mtDNA coding region sequences (using the rCRS as the reference). In addition to listing mutations and the study that identified each particular sequence, the tree labels each mutation as a substitution mutation, a silent mutation, a tRNA or rRNA mutation, a mutation in the noncoding region, or a pathological mutation. MITOMAP also provides another valuable tool, tables of mtDNA polymorphisms with source information.

The tree will potentially be very useful to both researchers and genetic genealogists by providing a quick and easy way to characterize new sequences. Anyone interested in learning more about their haplogroup or how their haplogroup fits into the human mtDNA tree will find the new mtDNA phylogenetic tree extremely informative.

Scientists have analyzed the mitochondrial and Y-chromosomal DNA from a 10,300-year-old human remains found in On Your Knees Cave on Prince of Wales Island in Alaska. These remains, the oldest human remains known from Alaska or Canada are from a young man in his early twenties.

DNA sequencing showed that the individual’s mitochondrial DNA belongs to an ancient subhaplogroup of haplogroup D that was brought to the Americas rather than mutating from haplogroup D once it arrived in the Americas. Interestingly, a sample of almost 3,500 Native Americans revealed that only 1.5% belonged to the same subhaplogroup of D (characterized by 16223T, 16342C, and 16241G). Those that did were found mostly along the Pacific coast of North and South America.

Characterization of additional founder haplogroups would disturb past attempts at calculating the dates of founding because these calculations were based upon mutation rates of a limited number of haplogroups. For instance, in this case subhaplogroup D did not need the extra time to mutate from haplogroup D – it merely arrived with haplogroup D. This could significantly shorten the estimated arrival time of founder haplogroups.

The abstract and PDF at American Journal of Physical Anthropology is available here.

The National Geographic summary is available here.

Other articles by Brian Kemp are located at Pubmed.