Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution
文献类型：期刊论文
| 作者 | Shi, Lei1; Hu, Enzhi1,2; Wang, Zhenbo3; Liu, Jiewei1,2; Li, Jin4,5 ; Li, Ming1,6; Chen, Hua7; Yu, Chunshui8,9; Jiang, Tianzi3,10,11,12; Su, Bing1
|
| 刊名 | HUMAN GENETICS
 |
| 出版日期 | 2017-02-01 |
| 卷号 | 136期号:2页码:193-204 |
| DOI | 10.1007/s00439-016-1748-5 |
| 文献子类 | Article |
| 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. |
| WOS关键词 | CEREBRAL CORTICAL SIZE ; MAXIMUM-LIKELIHOOD ; MICROCEPHALY GENES ; MAJOR DETERMINANT ; PHYLOGENETIC ANALYSIS ; MOLECULAR EVOLUTION ; CENTROSOMAL PROTEIN ; ADAPTIVE EVOLUTION ; GENOME SEQUENCE ; MUTATIONS |
| WOS研究方向 | Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000393822400005 |
| 资助机构 | 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) |
| 源URL | [http://ir.ia.ac.cn/handle/173211/14384]  |
| 专题 | 自动化研究所_脑网络组研究中心 |
| 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 |
| 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. |
入库方式： OAI收割
来源：自动化研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。