Molecular Biology and Evolution, Vol 12, 863-882, Copyright © 1995 by Society for Molecular Biology and Evolution
D Penny, M Steel, PJ Waddell and MD Hendy
New quantitative methods are applied to the 135 human mitochondrial
sequences from the Vigilant et al. data set. General problems in analyzing
large numbers of short sequences are discussed, and an improved strategy is
suggested. A key feature is to focus not on individual trees but on the
general "landscape" of trees. Over 1,000 searches were made from random
starting trees with only one tree (a local optimum) being retained each
time, thereby ensuring optima were found independently. A new tree
comparison metric was developed that is unaffected by rearrangements of
trees around many very short internal edges. Use of this metric showed that
downweighting hypervariable sites revealed more evolutionary structure than
studies that weighted all sites equally. Our results are consistent with
convergence toward a global optimum. Crucial features are that the best
optima show very strong regional differentiation, a common group of 49
African sequences is found in all the best optima, and the best optima
contain the 16 !Kung sequences in a separate group of San people. The other
86 sequences form a heterogeneous mixture of Africans, Europeans,
Australopapuans, and Asians. Thus all major human lineages occur in Africa,
but only a subset occurs in the rest of the world. The existence of these
African-only groups strongly contradicts multiregional theories for the
origin of Homo sapiens that require widespread migration and interbreeding
over the entire range of H. erectus. Only when the multiregional model is
rejected is it appropriate to consider the root, based on a single locus,
to be the center of origin of a population (otherwise different loci could
give alternative geographic positions for the root). For this data, several
methods locate the root within the group of 49 African sequences and are
thus consistent with the recent African origin of H. sapiens. We
demonstrate that the time of the last common ancestor cannot be the time of
major expansion in human numbers, and our results are thus also consistent
with recent models that differentiate between the last common ancestor,
expansion out of Africa, and the major expansion in human populations. Such
a two-phase model is consistent with a wide range of molecular and
archeological evidence.
ORIGINAL ARTICLE
Improved analyses of human mtDNA sequences support a recent African origin for Homo sapiens
School of Biological Sciences, Massey University, Palmerston North, New Zealand.
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