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

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

	Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution
	Shi L 1; Hu EZ 1,2; Li M 1,5; Chen H 6; Yu CS 7; Jiang TZ 3,8,9,10; Su B[*]1; Wang ZB 3; Liu JW 1,2; Li J 4
刊名	Human Genetics
	2017
卷号	136 期号:2 页码:193-204
通讯作者	sub@mail.kiz.ac.cn
英文摘要	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.
收录类别	SCI
资助信息	This work was supported by grants from the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13010000), and the National Natural Science Foundation of China (31130051, 31321002, 31123005 and 31301028). This study was also supported by funding from the Youth Innovation Promo- tion Association of CAS and the State Key Laboratory of Genetic Resources and Evolution (GREKF14-08).
语种	英语
内容类型	期刊论文
源URL	[http://159.226.149.26:8080/handle/152453/10675]
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_转化基因组
作者单位	1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, People’s Republic of China 2.Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing, China 3.Institute of Zoology, Chinese Academy of Sciences, Beijing, China 4.Brainnetome Center and National Laboratory of Pattern Recognition, Institute of Automation, Chinese Academy of Sciences, Beijing, China 5.Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, MD, USA 6.Center for Computational Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China 7.Department of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin 300052, China 8.CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China 9.Key Laboratory for NeuroInformation of Ministry of Education, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China 10.Queensland Brain Institute, University of Queensland, Brisbane, Australia
推荐引用方式 GB/T 7714	Shi L,Hu EZ,Li M,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 L.,Hu EZ.,Li M.,Chen H.,Yu CS.,...&Li J.(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 L,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.