Molecular Biology and Evolution, Vol 13, 1067-1077, Copyright © 1996 by Society for Molecular Biology and Evolution
D Comas, F Calafell, E Mateu, A Perez-Lezaun and J Bertranpetit
The hypervariable segment I of the control region of the mtDNA (positions
16024-16383) was amplified from hair roots by PCR and sequenced in 45
unrelated individuals from Anatolia (Asian Turkey). Forty different
sequences were found, defined by 56 variable positions, of which only one
involves a transversion. The neighbor-joining tree of Kimura's distance
matrix for all sequences shows four main clusters. Cluster D was found to
be the most statistically robust of the four, and all the sequences in it
shared a mutation that is present only in European and West Asian
populations. The variability in cluster D could have originated between
37,000 and 107,000 years ago. No branch is unexpectedly long, denoting the
absence of sequences that diverged much before the others. The pairwise
difference distribution is bell-shaped, in accordance with a population
expansion occurring roughly 35,000 to 100,000 years ago. When compared to
other Caucasoid populations through the pairwise difference distribution,
there is a pattern from the Middle East (older expansion) to the various
European populations, with Turkey in an intermediate position; when Turkish
sequences are compared through a neighbor-joining tree on a genetic
distance matrix of populations, this position is again evidenced. Although
there is a very low level of genetic divergence among Caucasoid populations
as shown by mtDNA control region sequences, a geographic pattern of genetic
variation emerges, denoting a stepping-stone position of Turkey between the
Middle East and Europe, which is in agreement with the hypothesis of a
replacement of Neanderthals by modern humans, which could be related to the
Upper Paleolithic cultural expansion.
ORIGINAL ARTICLE
Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations
Laboratori d' Antropologia, Facultat de Biologia, Universitat de Barcelona, Catalonia, Spain.
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