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Molecular Biology and Evolution, Vol 14, 166-172, Copyright © 1997 by Society for Molecular Biology and Evolution
J Hey
Human mitochondrial DNA (mtDNA) sequences reveal an abundance of
polymorphic sites in which the frequencies of the segregating bases are
very different. A typical polymorphism involves one base at low frequency
and the other base at high frequency. In contrast, nuclear gene data sets
tend to show an excess of polymorphisms in which both segregating bases are
at intermediate frequencies. A new statistical test of this difference
finds significant differences between mtDNA and nuclear gene data sets
reported in the literature. However, differences in the polymorphism
patterns could be caused by different sample origins for the different data
sets. To examine the mtDNA-nuclear difference more closely, DNA sequences
were generated from a portion of the X-linked pyruvate dehydrogenase E1
alpha subunit (PDHA1) locus and from a portion of mitochondrial control
region I (CRI) from each of eight individuals, four from sub-Saharan
Africa. The two genes revealed a significant difference in the site
frequency distribution of polymorphic sites. PDHA1 revealed an excess of
intermediate-frequency polymorphisms, while CRI showed an excess of sites
with the low-high frequency pattern. The discrepancy suggests that
mitochondrial variation has been shaped by natural selection, and may not
be ideal for some questions on human origins.
ORIGINAL ARTICLE
Mitochondrial and nuclear genes present conflicting portraits of human origins
Department of Ecology, Evolution, and Natural Resources, Rutgers University, Piscataway 08855-1059, USA. bey@mbel.rutgers.edu
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