Molecular Biology and Evolution, Vol 14, 707-716, Copyright © 1997 by Society for Molecular Biology and Evolution
CA Wise, M Sraml, DC Rubinsztein and S Easteal
Restriction mapping and sequencing have shown that humans have
substantially lower levels of mitochondrial genome diversity (d) than
chimpanzees. In contrast, humans have substantially higher levels of
heterozygosity (H) at protein-coding loci, suggesting a higher level of
diversity in the nuclear genome. To investigate the discrepancy further, we
sequenced a segment of the mitochondrial genome control region (CR) from 49
chimpanzees. The majority of these were from the Pan troglodytes versus
subspecies, which was underrepresented in previous studies. We also
estimated the average heterozygosity at 60 short tandem repeat (STR) loci
in both species. For a total sample of 115 chimpanzees, d = 0.075 +/0
0.037, compared to 0.020 +/- 0.011 for a sample of 1,554 humans. The
heterozygosity of human STR loci is significantly higher than that of
chimpanzees. Thus, the higher level of nuclear genome diversity relative to
mitochondrial genome diversity in humans is not restricted to
protein-coding loci. It seems that humans, not chimpanzees, have an unusual
d/H ratio, since the ratio in chimpanzees is similar to that in other
catarrhines. This discrepancy in the relative levels of nuclear and
mitochondrial genome diversity in the two species cannot be explained by
differences in mutation rate. However, it may result from a combination of
factors such as a difference in the extent of sex ratio disparity, the
greater effect of population subdivision on mitochondrial than on nuclear
genome diversity, a difference in the relative levels of male and female
migration among subpopulations, diversifying selection acting to increase
variation in the nuclear genome, and/or directional selection acting to
reduce variation in the mitochondrial genome.
ORIGINAL ARTICLE
Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees
John Curtin School of Medical Research, Australian National University, Canberra, Australia. cheryl.wise@anu.edu.au
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