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Human Molecular Genetics Advance Access published online on March 31, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh127
© 2004 by Oxford University Press
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©2004

Article

Molecular evolution of microcephalin, a gene determining human brain size

Yin-qiu Wang 1 and Bing Su 2*

1 Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, the Chinese Academy of Sciences (CAS), Kunming, China
2 Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, the Chinese Academy of Sciences (CAS), Kunming, China; Center for Genome Information, Department of Environmental Health, University of Cincinnati, 3223 Eden Ave., Cincinnati, OH 45267, USA

* To whom correspondence should be addressed. E-mail: sub{at}mail.kiz.ac.cn/bing.su@uc.edu.


  Abstract

Microcephalin gene is one of the major players in regulating human brain development. It was reported that truncated mutations in this gene can cause primary microcephaly in humans with a brain size comparable with that of early hominids. We studied the molecular evolution of microcephalin by sequencing the coding region of microcephalin gene in humans and twelve representative nonhuman primate species covering great apes, lesser apes, Old World monkeys and New World monkeys. Our results showed that microcephalin is highly polymorphic in human populations. We observed 22 substitutions in the coding region of microcephalin gene in human populations with 15 of them causing amino acid changes. The neutrality tests and phylogenetic analysis indicated that the rich sequence variations of microcephalin in humans are likely caused by the combination of recent population expansion and Darwinian positive selection. The synonymous/non-synonymous analyses in primates revealed positive selection on microcephalin during the origin of the last common ancestor of humans and great apes, which coincides the drastic brain enlargement from lesser apes to great apes. The codon-based neutrality test also indicated the signal of positive selection on five individual amino acid sites of microcephalin, which may contribute to brain enlargement during primate evolution and human origin.


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