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Human Molecular Genetics Advance Access originally published online on January 19, 2008
Human Molecular Genetics 2008 17(9):1329-1335; doi:10.1093/hmg/ddn021
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population

Jin-kai Wang1,2,4, Yi Li3 and Bing Su1,2,*

1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology 2 Kunming Primate Research Centre, Chinese Academy of Sciences, Kunming, Yunnan, PR China 3 Department of Chemistry and Life Science, Qujing Normal University, Qujing, Yunnan, PR China 4 Graduate School of Chinese Academy of Sciences, Beijing, PR China

* To whom correspondence should be addressed at: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, 32 East Jiao-Chang Road, Kunming 650223, Yunnan, PR China. Tel: +86 8715120212; Fax: +86 8715193137; Email: sub{at}mail.kiz.ac.cn

Received November 17, 2007; Revised December 23, 2007; Accepted January 16, 2008

Microcephaly (MCPH) genes are informative in understanding the genetics and evolution of human brain volume. MCPH1 and abnormal spindle-like MCPH associated (ASPM) are the two known MCPH causing genes that were suggested undergone recent positive selection in human populations. However, previous studies focusing only on the two tag single nucleotide polymorphisms(SNPs) of MCPH1 and ASPM failed to detect any correlation between gene polymorphisms and variations of brain volume and cognitive abilities. We conducted an association study on eight common SNPs of MCPH1 and ASPM in a Chinese population of 867 unrelated individuals. We demonstrate that a non-synonymous SNP (rs1057090, V761A in BRCA1 C-terminus (BRCT) domain) of MCPH1 other than the two known tag SNPs is significantly associated with cranial volume in Chinese males. The haplotype analysis confirmed the association of rs1057090 with cranial volume, and the homozygote males containing the derived alleles of rs1057090 have larger cranial volumes compared with those containing the ancestral alleles. No recent selection signal can be detected on this SNP, suggesting that the brain volume variation in human populations is likely neutral or under very weak selection in recent human history.


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