Mitochondrial DNA Study Supports Out of Africa Evolution

From: Blaine D. McArthur (blaine.mac@juno.com)
Date: Fri Dec 08 2000 - 23:05:28 EST

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    A report in the Dec. 7, 2000 issue of Nature provides significant new
    evidence for the Out of Africa hypothesis. This hypothesis,
    referred to by some as the "Mitochondrial Eve hypothesis', suggests that
                anatomically modern humans first migrated from the African
    continent about 50,000 years ago. News reports addressing the Nature
    study can be found below.

    http://abcnews.go.com/sections/science/DailyNews/human_evolution001206.ht
    ml

    http://news.bbc.co.uk/hi/english/sci/tech/newsid_1058000/1058484.stm

    http://www.foxnews.com/scitech/120700/outofafrica.sml

    http://www.msnbc.com/news/499641.asp?cp1=1

    Note that these reports mention that mitochondrial DNA is inherited only
    from the mother. It has been reported on this list that studies have
    shown that this is not true, that there is paternal contribution to
    mtDNA.

    I would like to mention that one of the original reports alleging
    paternal contribution to mtDNA on the island of Vanuatu (Hagelberg, et
    al.1999 Proc Royal Soc Lon - B, vol. 266, pp. 485-492, ) has since been
    retracted in full by the authors. ( Proc Royal Soc Lon - B vol. 267, pp.
    1595-1596) Their original claim for evidence of recombination turned out
    to be sequence alignment errors.

    The second paper alleging paternal contribution was by Awadalla &
    Eyre-Walker (1999 Proc Royal Soc Lon - B vol. 266, pp.477-483.) Macaulay
    et al. (1999 Proc Royal Soc Lon - B vol. 266, pp. 2037-2039) commented on
    their analysis and pointed out errors in the data which, when corrected,
    no longer gave a significant effect. In a reply to this comment,
    Eyre_Walker et al. (1999 Proc Royal Soc Lon - B vol. 266, pp.2041-2042)
    admitted that removing erroneous sequences does remove the significant
    effect, but they went on to argue that there was still evidence of
    recombination in human mtDNA, citing a similar analysis of mtDNA, that
    is, the retracted paper by Hagelberg mentioned above.

    In addition, a recent technical comments in the online version of Science
     was titled "Questioning Evidence for Recombination in Human
    Mitochondrial DNA" ( www.sciencemag.org vol 288 16 June 2000 p. 1931a.)
    Four different research teams pointed out various flaws in the
    Awadalla/Eyre-Walker report. In spite of the above, and this report,
    Awadalla & Eyre-Walker remain, so to speak,"unrepentant."

    Mark Stoneking has just published an paper titled "Hypervariable Sites in
    the mtDNA Control Region are Mutational Hotspots" (2000 Am. J. Hum.
    Genet., 67:1029_1032) He writes: "both germline and somatic mtDNA
    mutations occur preferentially at hypervariable sites, which supports the
    view that hypervariable sites are indeed mutational hotspots" and are not
    to be interpreted as recombination."

    In sum,
    the Hagelberg paper has been withdrawn; the Awadalla / Eyre-Walker has
    been effectively impeached; Research has been presented that
    hypervariable sites should not be interpreted as recombination. This,
    combined with the fact that mtDNA is severely degraded by time it reaches
    the egg, and that there is a powerful biochemical mechanism ("targeted
    protein degradation") utilizing Ubiquitin, which is effectively a "sperm
    killer" which functions to prevent and eliminate male mtDNA in the egg.
    Paternal contribution of mtDNA is effectively a dead issue, and can not
    be used to criticize phylogenetic studies based on the use of mtDNA.
    Blaine



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