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MBE Advance Access published online on May 30, 2003
Molecular Biology and Evolution, doi:10.1093/molbev/msg134
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2003; all rights reserved
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Accepted March 25, 2003
© 2003 Society for Molecular Biology and Evolution

Original Articles

Gene Diversity Patterns at Ten X-Chromosomal Loci in Humans and Chimpanzees

Takashi Kitano 1, Carsten Schwarz 1, Birgit Nickel 1, Svante Pääbo 1*

1 Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany D-04103

* To whom correspondence should be addressed. E-mail: paabo{at}eva.mpg.de.


  Abstract

We have investigated the pattern and extent of nucleotide diversity in 10 X-chromosomal genes where mutations are known to cause mental retardation in humans. For each gene, we sequenced the entire coding regions from cDNA in humans, chimpanzees and orangutans as well as about 3 kb of genomic DNA in 20 humans sampled world-wide and in 10 chimpanzees representing two "subspecies". Overall nucleotide diversity in these genes is about two-fold lower in humans than in chimpanzees and nucleotide diversity within and between species is low, suggesting that a high level of functional constraints acts on these genes. Strikingly, we find that a summary of the allele frequency spectrum is significantly correlated in humans and chimpanzees, perhaps reflecting very similar levels of constraints at these genes in the two species. A possible exception is FMR2, which shows a higher number of non-synonymous than synonymous substitutions on the human lineage, suggesting the action of positive selection.

Key Words: Chimpanzees, Humans, Nucleotide diversity, Selection


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