| Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution | |
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
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| Source Publication | HUMAN GENETICS
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| 2017-02-01 | |
| Volume | 136Issue:2Pages:193-204 |
| Subtype | Article |
| Abstract | 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 Headings | Science & Technology ; Life Sciences & Biomedicine |
| DOI | 10.1007/s00439-016-1748-5 |
| WOS Keyword | CEREBRAL CORTICAL SIZE ; MAXIMUM-LIKELIHOOD ; MICROCEPHALY GENES ; MAJOR DETERMINANT ; PHYLOGENETIC ANALYSIS ; MOLECULAR EVOLUTION ; CENTROSOMAL PROTEIN ; ADAPTIVE EVOLUTION ; GENOME SEQUENCE ; MUTATIONS |
| Indexed By | SCI |
| Language | 英语 |
| Funding Organization | 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 Research Area | Genetics & Heredity |
| WOS Subject | Genetics & Heredity |
| WOS ID | WOS:000393822400005 |
| Citation statistics | |
| Document Type | 期刊论文 |
| Identifier | http://ir.ia.ac.cn/handle/173211/14384 |
| Collection | 脑网络组研究 |
| Affiliation | 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 |
| Recommended Citation 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. |
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