jim sims

A few highlights: 5th Annual FamilyTree DNA Admin Conference

With the closing  Q&A panel in Houston, Texas just an couple of hours ago, here are a few highlights of the conference from my perspective...

• FamilyTree DNA (FTDNA) has turned some attention to having a local presence in the UK.  If they do establish a local presence, perhaps many of their American customers will have more UK family results in the database with which Americans might establish long lost connections. Also, FTDNA announced they will be the exclusive vendor of DNA testing services for the 2009 Gathering of the Clans of Scotland in July.
• Mike Hammer, Ph.D, University of Arizona, gave a talk updating the human Y-chromosome tree.  They handed out a new poster with the updated three which inlcudes:
  • New SNPs:
    • 2 new SNPs for haplogroup E
    • 7 new SNPs for haplogroup G
    • 1 new SNP for haplogroup H
    • 5 new SNPs for haplogroup I
    • 4 new SNPs in subhaplogroup J2
    • 1 new SNP in haplogroup N
    • 12 new SNPs and 9 new subclades in R
      • The new L21 SNP in R is at very high frequency in Ireland, Scotland and England, much lower in Northern France/Low Countries, and at very low frequency in the Iberian peninsula.  Preliminary calculations suggest a 4,000 to 8,000 year age for L21. This blogger, who is L21+, contributed 23AndMe SNPs to a group of researchers this winter who identified is L21 downstream of M269. Now, we need more SNPs downstream from L21 to place men in Ireland, Scotland and England or on the continent.
• Roberta Estes gave a talk in an International Society of Genetic Genealogy (ISOGG), FTDNA chapter, session on Saturday after the FTDNA sessions finished.  Here talk was titled "Were have all the Indians Gone?".  Her talk was confined to the Indians east of the Mississippi River.  She has been involved in the Melungeon Project, the Lost Colony Project and several others that involve the peoples in and around the coastal regions of southern Virgina and northern North Carolina.  The story is generally one of extinction of many tribes, which is not new.  She concluded by discussing the Malhi 2008 paper that reports a stunning introgression of European Y-chromosomes into the eastern tribes that strongly suggest very early contact with Europeans.
• Because your blogger has a fairly rare mtDNA haplogroup V2 sequence for someone of European descent, and he as contributed his full mtDNA sequence to the FTNDA mtDNA research effort, he was happy to chat with Doron Bahar, M.D., the mtDNA research scientist associated with FTDNA.  A new paper on the macro haplgroup V is in the works, as well as a couple of other papers on other macro haplogroups.  If you are a V, stay tuned.
• For FTDNA customers, coming soon:
  • Smart Matching that allows haplogroups to take precedence over STR values for Y-chromosomes and HSV-1 and HSV-2 mutations in mtDNA when reporting matches.  No more matches with people in different haplogroups.  Yeah!
  • More powerful group administrator tools.  For those who want to stay with the current tool, they will be available for some indefinite time.  The new dashboard widgets are graphical and allow administrators to organize their members and results in different ways.  The dashboard seems like a step in the right direction for those who are very comfortable with graphical representations of data and don't mind working with data in new ways.
• Spencer Wells, Ph.D. of the Genographic Project talked about his recent work in Chad and to a lesser extent in Central Eurasia (last year's talk by his colleage).  Since the research papers are not out yet, he did not have much to say in the way of specific sequence information.  FTDNA performs the DNA analysis for the Genographic Project.

References:
Ripan Singh Malhi, et al., Distribution of Y Chromosomes Among Native North Americans: A Study of Athapaskan Population History, Amer. J. Physical Anthro. 137:412–424 (2008)

Genes and geography in Europe

At left is a principle component analysis of European genetic variability as described in a recent paper by Carlos Bustamenta et al. in the British journal Nature.  The paper describes the genotyping of 3,192 Europeans at 500,568 single nucleotide (SNP) polymorphisms using the Affymetrix 500K chip. The authors say that they focused on 197,146 SNPs from 1,387 individuals that met their criteria of high confidence that included having four grandparents born nearby the location in Europe sampled.

The principle component analysis looks very much like the map of Europe, suggesting more population structure than may have been previously appreciated. It remains to be seen if these kinds of analyzes will be useful for families that left Europe between three and four hundred years ago.  Only time will tell if we can say with some certainty that this part of this chromosome came from England, this part from France, this from Spain, etc.

Ref:  Carlos D. Bustamente et al., a letter in Nature doi:10.1038/nature07331, 2008; listen to an interview with two of the authors featured on the Nature: 04 Sep 2008 podcast, skip to 1:20 to begin the segment.

The power of more markers

For those of us doing genetic genealogy as a hobby or as a passion, we can only hope for  future economies of scale that will allow us to utilize 624,690 DNA markers to understand our prehistorical pasts in more detail.  Such is the case in a recent Science paper that analyzes human genetic history.  With so many markers, it was possible to clearly differentiate European populations.  See the principle component analysis chart.

Ref: Worldwide Human Relationships Inferred from Genome-Wide Patters of Variation, Science 319, 1100 (2008)