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Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700420/ https://www.ncbi.nlm.nih.gov/pubmed/26729229 http://dx.doi.org/10.1038/srep18755 |
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author | Khan, Asifullah Tian, Lei Zhang, Chao Yuan, Kai Xu, Shuhua |
author_facet | Khan, Asifullah Tian, Lei Zhang, Chao Yuan, Kai Xu, Shuhua |
author_sort | Khan, Asifullah |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4700420 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-47004202016-01-13 Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations Khan, Asifullah Tian, Lei Zhang, Chao Yuan, Kai Xu, Shuhua Sci Rep Article 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. Nature Publishing Group 2016-01-05 /pmc/articles/PMC4700420/ /pubmed/26729229 http://dx.doi.org/10.1038/srep18755 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Khan, Asifullah Tian, Lei Zhang, Chao Yuan, Kai Xu, Shuhua Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title | Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title_full | Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title_fullStr | Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title_full_unstemmed | Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title_short | Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
title_sort | genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700420/ https://www.ncbi.nlm.nih.gov/pubmed/26729229 http://dx.doi.org/10.1038/srep18755 |
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