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Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations | |
Khan, Asifullah1,2; Tian, Lei1; Zhang, Chao1; Yuan, Kai1; Xu, Shuhua1,3,4 | |
2016-01-05 | |
发表期刊 | SCIENTIFIC REPORTS |
ISSN | 2045-2322 |
卷号 | 6 |
发表状态 | 已发表 |
DOI | 10.1038/srep18755 |
摘要 | The glycine amidinotransferase gene (GATM) plays a vital role in energy metabolism in muscle tissues and is associated with multiple clinically important phenotypes. However, the genetic diversity of the GATM gene remains poorly understood within and between human populations. Here we analyzed the 1,000 Genomes Project data through population genetics approaches and observed significant genetic diversity across the GATM gene among various continental human populations. We observed considerable variations in GATM allele frequencies and haplotype composition among different populations. Substantial genetic differences were observed between East Asian and European populations (F-ST = 0.56). In addition, the frequency of a distinct major GATM haplotype in these groups was congruent with population-wide diversity at this locus. Furthermore, we identified GATM as the top differentiated gene compared to the other statin drug response-associated genes. Composite multiple analyses identified signatures of positive selection at the GATM locus, which was estimated to have occurred around 850 generations ago in European populations. As GATM catalyzes the key step of creatine biosynthesis involved in energy metabolism, we speculate that the European prehistorical demographic transition from hunter-gatherer to farming cultures was the driving force of selection that fulfilled creatine-based metabolic requirement of the populations. |
收录类别 | SCI |
语种 | 英语 |
资助项目 | NSFC Research Fellowship for International Young Scientists[31550110218] |
WOS研究方向 | Science & Technology - Other Topics |
WOS类目 | Multidisciplinary Sciences |
WOS记录号 | WOS:000368356100001 |
出版者 | NATURE PUBLISHING GROUP |
WOS关键词 | POSITIVE SELECTION ; KIDNEY-DISEASE ; RENAL-FUNCTION ; DEFICIENCY ; CREATINE ; ASSOCIATION ; METABOLISM ; FARMERS ; EUROPE ; GENOME |
原始文献类型 | Article |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/1950 |
专题 | 生命科学与技术学院_特聘教授组_徐书华组 |
通讯作者 | Xu, Shuhua |
作者单位 | 1.Chinese Acad Sci, Chinese Acad Sci CAS Key Lab Computat Biol, Max Planck Independent Res Grp Populat Genom, CAS MPG Partner Inst Computat Biol PICB,Shanghai, Shanghai 200031, Peoples R China 2.AWKUM, Dept Biochem, Mardan, Khyber Pakhthun, Pakistan 3.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 200031, Peoples R China 4.Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China |
通讯作者单位 | 生命科学与技术学院 |
推荐引用方式 GB/T 7714 | Khan, Asifullah,Tian, Lei,Zhang, Chao,et al. Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations[J]. SCIENTIFIC REPORTS,2016,6. |
APA | Khan, Asifullah,Tian, Lei,Zhang, Chao,Yuan, Kai,&Xu, Shuhua.(2016).Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations.SCIENTIFIC REPORTS,6. |
MLA | Khan, Asifullah,et al."Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations".SCIENTIFIC REPORTS 6(2016). |
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