DNA Studies

If you’re interested in DNA, Native American History, or genetic genealogy, then you’re undoubtedly heard of a new paper from PLoS ONE called “The Phylogeny of the Four Pan-American mtDNA Haplogroups: Implications for Evolutionary and Disease Studies.” The authors, from all around the world (including Ugo A. Perego from SMGF and Antonio Torroni from Italy) analyze over 100 complete Native America mtDNA genomes. From the abstract:

“In this study, a comprehensive overview of all available complete mitochondrial DNA (mtDNA) genomes of the four pan-American haplogroups A2, B2, C1, and D1 is provided by revising the information scattered throughout GenBank and the literature, and adding 14 novel mtDNA sequences. The phylogenies of haplogroups A2, B2, C1, and D1 reveal a large number of sub-haplogroups but suggest that the ancestral Beringian population(s) contributed only six (successful) founder haplotypes to these haplogroups.” ... Click to read more!

On the heels of my recent post discussing all the interesting information that’s recently entered the blogosphere about genetic genealogy and DNA studies, here are a few more:

Misha Angrist, one of the Personal Genome Project’s “First 10“, wrote an article about the inevitability of DNA sequencing at News Observer. The article is a response to a recent editorial in the NEJM.

VisiGen Biotechnologies announces that IF their technology works as planned, the $1000 genome is just months or a few years away. See more at Genetics and Health and Next Generation Sequencing. Pacific Biosciences (PacBio) has made a similar announcement.

John Hawk’s Anthropology Weblog, “Viking Ancestry, Surnames and Medieval Genetics” examines a recent study in Molecular Biology and Evolution “investigating whether the Viking influence on surnames in England is mirrored by Y chromosomes.” It’s a great post, especially for genetic genealogists. ... Click to read more!

There is so much to talk about, and so little time to write. So I thought I’d do a round-up post to bring these interesting stories to your attention. I hope you enjoy the following:

Of great significance to genetic genealogists, the Wall Street Journal says that as many as 1 in 25 children are the result of non-paternal events! The number seems very high, but it is based on a 2005 report in the Journal of Epidemiology and Community Health studying families in “the U.S., Europe, Russia, Canada, South Africa and several other countries.”

SNP studies are coming out left and right. The recent studies have examined variation among genomes from numerous populations using SNP chips that examine 600,000 or more SNPs. See more at GenomeWeb News, The Spittoon, and Genetic Future. A great quote comes from a discussion of one of these SNP studies at the terrific Dienekes’ Anthropology Blog: ... Click to read more!

A report published in the New England Journal of Medicine entitled “Letting the Genome Out of the Bottle – Will We Get Our Wish?” is getting a lot of coverage elsewhere, but I thought I’d add my two cents. The report’s authors are largely concerned with quality control, clinical validity (the actual predictive value of genetic tests), and utility (the balance of family history and genetic testing) of genome scans offered by companies such as 23andMe, deCODEme, and Navigenics. They also suggest that people wait for the science to catch up before purchasing genome scans. There is an NEJM audio interview with Muin Khoury, one of the authors of the study about the subject. Note that this particular report is about medical implications of genetic testing, not about genetic genealogy (two very different topics that were very confusingly jumbled in the recent article “A High-Tech Family Tree” from U.S. News & World Report). ... Click to read more!

Scientists from the University of Utah have traced a mutation in the adenomatous polyposis coli (APC) gene to a Mr. and Mrs. George Fry, who arrived in the New World aboard the William & Mary around 1630.

The mutation, c.426_427delAT, is believed to increase the carrier’s chances of developing colon cancer from 2 in 3 by age 80, a significant increase from the normal of 1 in 24. The study is available here for FREE – thank you open access – and is entitled “American Founder Mutation for Attenuated Familial Adenomatous Polyposis.”

Scientists traced two branches (from two of the Fry’s four children) of the family back to the Fry family, one in Upstate New York and one in Utah. The family in Utah, with more than 5,000 people, has been the focus of scientific study for over 14 years because of their unfortunately high risk of colon cancer. In fact, members of the Utah branch constitute 0.15% of all colon cancer in the state of Utah! ... Click to read more!

As of the end of November, the Personal Genome Project has a newly-designed and user-friendly website. Compare the OLD site and the NEW site – what an improvement! Misha Angrist, aka genomeboy.com and one of the “First 10” aptly called the site “PGP 2.0”.

The new site is extremely well organized and contains information about the project and about participating in the project, if one is so inclined. Since this project will contain so much personal information about each individual that joins, participants will go through an extensive consent process that will include education, physician assistance, and even an online assessment to gauge the participant’s grasp of genetics and the risks of participation, among other things. I know that the team is working feverishly behind the scenes to gather as much information as possible to create an extensive consent protocol. ... Click to read more!