Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution

doi:10.1007/s00439-016-1748-5

	Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution
	Shi, Lei 1; Hu, Enzhi 1,2; Wang, Zhenbo 3; Liu, Jiewei 1,2; Li, Jin4,5 ; Li, Ming 1,6; Chen, Hua 7; Yu, Chunshui 8,9; Jiang, Tianzi3,10,11,12 ; Su, Bing 1
发表期刊	HUMAN GENETICS
	2017-02-01
卷号	136 期号:2 页码:193-204
文章类型	Article
摘要	Human evolution is marked by a continued enlargement of the brain. Previous studies on human brain evolution focused on identifying sequence divergences of brain size regulating genes between humans and nonhuman primates. However, the evolutionary pattern of the brain size regulating genes during recent human evolution is largely unknown. We conducted a comprehensive analysis of the brain size regulating gene CASC5 and found that in recent human evolution, CASC5 has accumulated many modern human specific amino acid changes, including two fixed changes and six polymorphic changes. Among human populations, 4 of the 6 amino acid polymorphic sites have high frequencies of derived alleles in East Asians, but are rare in Europeans and Africans. We proved that this between-population allelic divergence was caused by regional Darwinian positive selection in East Asians. Further analysis of brain image data of Han Chinese showed significant associations of the amino acid polymorphic sites with gray matter volume. Hence, CASC5 may contribute to the morphological and structural changes of the human brain during recent evolution. The observed between-population divergence of CASC5 variants was driven by natural selection that tends to favor a larger gray matter volume in East Asians.
WOS标题词	Science & Technology ; Life Sciences & Biomedicine
DOI	10.1007/s00439-016-1748-5
关键词[WOS]	CEREBRAL CORTICAL SIZE ; MAXIMUM-LIKELIHOOD ; MICROCEPHALY GENES ; MAJOR DETERMINANT ; PHYLOGENETIC ANALYSIS ; MOLECULAR EVOLUTION ; CENTROSOMAL PROTEIN ; ADAPTIVE EVOLUTION ; GENOME SEQUENCE ; MUTATIONS
收录类别	SCI
语种	英语
项目资助者	Strategic Priority Research Program of the Chinese Academy of Sciences(XDB13010000) ; National Natural Science Foundation of China(31130051 ; Youth Innovation Promotion Association of CAS ; State Key Laboratory of Genetic Resources and Evolution(GREKF14-08) ; 31321002 ; 31123005 ; 31301028)
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:000393822400005
引用统计	被引频次：8[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	http://ir.ia.ac.cn/handle/173211/14384
专题	脑图谱与类脑智能实验室_脑网络组研究
作者单位	1.Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming, Peoples R China 2.Univ Chinese Acad Sci, Kunming Coll Life Sci, Beijing, Peoples R China 3.Chinese Acad Sci, Inst Zool, Beijing, Peoples R China 4.Chinese Acad Sci, Inst Automat, Brainnetome Ctr, Beijing, Peoples R China 5.Chinese Acad Sci, Inst Automat, Natl Lab Pattern Recognit, Beijing, Peoples R China 6.Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA 7.Chinese Acad Sci, Beijing Inst Genom, Ctr Computat Genom, Beijing 100101, Peoples R China 8.Tianjin Med Univ, Gen Hosp, Dept Radiol, Tianjin 300052, Peoples R China 9.Tianjin Med Univ, Gen Hosp, Tianjin Key Lab Funct Imaging, Tianjin 300052, Peoples R China 10.Chinese Acad Sci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai, Peoples R China 11.Univ Elect Sci & Technol China, Key Lab NeuroInformat, Minist Educ, Sch Life Sci & Technol, Chengdu, Peoples R China 12.Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia
推荐引用方式 GB/T 7714	Shi, Lei,Hu, Enzhi,Wang, Zhenbo,et al. Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution[J]. HUMAN GENETICS,2017,136(2):193-204.
APA	Shi, Lei.,Hu, Enzhi.,Wang, Zhenbo.,Liu, Jiewei.,Li, Jin.,...&Su, Bing.(2017).Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution.HUMAN GENETICS,136(2),193-204.
MLA	Shi, Lei,et al."Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution".HUMAN GENETICS 136.2(2017):193-204.