CASIA OpenIR  > 脑网络组研究
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
Source PublicationHUMAN GENETICS
AbstractHuman 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 HeadingsScience & Technology ; Life Sciences & Biomedicine
Indexed BySCI
Funding OrganizationStrategic 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 AreaGenetics & Heredity
WOS SubjectGenetics & Heredity
WOS IDWOS:000393822400005
Citation statistics
Cited Times:5[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Affiliation1.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.
Files in This Item:
There are no files associated with this item.
Related Services
Recommend this item
Usage statistics
Export to Endnote
Google Scholar
Similar articles in Google Scholar
[Shi, Lei]'s Articles
[Hu, Enzhi]'s Articles
[Wang, Zhenbo]'s Articles
Baidu academic
Similar articles in Baidu academic
[Shi, Lei]'s Articles
[Hu, Enzhi]'s Articles
[Wang, Zhenbo]'s Articles
Bing Scholar
Similar articles in Bing Scholar
[Shi, Lei]'s Articles
[Hu, Enzhi]'s Articles
[Wang, Zhenbo]'s Articles
Terms of Use
No data!
Social Bookmark/Share
All comments (0)
No comment.

Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.