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

CORC > 昆明动物研究所 > 昆明动物研究所 > 遗传资源与进化国家重点实验室 > 比较基因组学

	A common SNP of MCPH1 is associated with cranial volume variation in Chinese population
	Wang JK 1,2,4; Li Y 3; Su B[*]1,2
刊名	HUMAN MOLECULAR GENETICS
	2008
卷号	17 期号:9 页码:1329-1335
通讯作者	sub@mail.kiz.ac.cn
合作状况	其它
英文摘要	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.
收录类别	SCI
资助信息	This study was supported by grants from the National 973 project of China (2006CB701506, 2007CB815705), the Chinese Academy of Sciences (KSCX1-YW-R-34), the National Natural Science Foundation of China (30623007, 30525028 and 30630013), and the Natural Science Foundation of Yunnan Province of China (2006C0083M).
语种	英语
内容类型	期刊论文
源URL	[http://159.226.149.26:8080/handle/152453/10507]
专题	昆明动物研究所_比较基因组学昆明动物研究所_遗传资源与进化国家重点实验室昆明动物研究所_中国科学院昆明灵长类研究中心
作者单位	1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 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
推荐引用方式 GB/T 7714	Wang JK,Li Y,Su B[*]. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population[J]. HUMAN MOLECULAR GENETICS,2008,17(9):1329-1335.
APA	Wang JK,Li Y,&Su B[*].(2008).A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.HUMAN MOLECULAR GENETICS,17(9),1329-1335.
MLA	Wang JK,et al."A common SNP of MCPH1 is associated with cranial volume variation in Chinese population".HUMAN MOLECULAR GENETICS 17.9(2008):1329-1335.