Neanderthal mtDNA reanalysis

From: Glenn Morton (glenn.morton@btinternet.com)
Date: Tue Jul 30 2002 - 00:07:24 EDT

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    There is a recent article analyzing the mtDNA extraction and phylogenies of
    Neanderthals. Claims have been made by some that the mtDNA of Neanderthals
    is so different from modern humans that they must be a different species.
    The authors point out that many of the comparisons between the Neanderthal
    and modern mtDNA were performed with a biased dataset-a dataset which is
    over represented by some populations and underrepresented by some
    populations. When this is fixed, the Neanderthals are not so far from us.
    They say:

    ìRecent reports analyzing mitochondrial DNA sequences from Neandertal bones
    have claimed that Neandertals and modern humans are different species. The
    phylogenetic analyses carried out in these articles did not take into
    account the high substitution rate variation among sites observed in the
    human mitochondrial D-loop region and also lack an estimation of the
    parameters of the nucleotide substitution model. The separate phylogenetic
    position of Neandertals is not supported when these factors are considered.
    Our analysis shows that Neandertal-Human and Human-Human pairwise distance
    distributions overlap more than what previous studies suggested. We also
    show that the most ancient Neandertal HVI region is the most divergent when
    compared with modern human sequences. However, the opposite would be
    expected if the sequence had not been modified since the death of the
    specimen. Such incongruence is discussed in the light of diagenetic
    modifications in ancient Neandertal DNA sequences.î Gabriel Gutierrez, Diego
    Sanchez and Antonio Marin, ìA Reanalysis of the Ancient Mitochondrial DNA
    Sequences Recovered from Neandertal Bones,î Molecular Biology and Evolution,
    19(8):1359-1366, p. 1359
    **
    NSG = Neanderthal Sequencing Groups
    ìThe NSG reported that the pairwise comparisons between the Neandertal and
    human sequences demonstrate that Neandertals are outside of modern human
    D-loop variability. In particular, Krings et al. (1997) stated that ëa total
    of 0.002% of the pairwise comparisons between human mtDNA sequences were
    larger than the smallest difference between the Neandertal and the humans.í
    We think that this point merits further analysis. The current database is
    biased because of the overrepresentation of some populations and the
    underrepresentation of others. For instance, the MOUSE database contains
    6,012 entries for the HVI region, but 31% of the entries belong to only 20
    populations out of 206 populations represented (10% of the total of
    populations). The extreme cases are 306 Koreans, 126 Yaps, 120 Cayapa
    Amerindians, 119 Mandeka, 115 Palau, and 100 white British. There are also
    1,417 entries of undetermined population (40% of them are from North America
    and 23% European, but only 9% are from Africa). Thus, African populations
    containing the most ancient lineages and the highest variation are
    underrepresented in the database. ì
    ìBecause of the database overrepresentation of some human populations, the
    distribution of pairwise distances is biased. A large part of pairwise
    comparisons are made between individuals belonging to the same population.
    Likewise, it is expected that most individuals from a single population will
    show similar distances to a given outgroup (Neandertal, in this case). To
    overcome this problem, we considered another sample of the human variation.
    We first sorted the HVI sequences in our data set according to its
    uncorrected distance to the reference sequence (Anderson et al. 1981 ). Then
    we grouped them into 171 classes, containing equidistant sequences
    (considering four decimals), and chose one sequence at random from each
    class. The computation of pairwise distances between the 171 randomly
    selected sequences and the Neandertals rendered 1.6% of human-human
    comparisons larger than the smallest difference between Neandertals and
    humans. Likewise, 27% of the comparisons are lower than the largest
    human-human difference. This result suggests that Neandertals sequences are
    not so different from those of extant humans, in contrast to the NSG
      claims.î
    Gabriel Gutierrez, Diego Sanchez and Antonio Marin, ìA Reanalysis of the
    Ancient Mitochondrial DNA Sequences Recovered from Neandertal Bones,î
    Molecular Biology and Evolution, 19(8):1359-1366, p. 1362-1363
    glenn

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