Evidence for positive selection on the Osteogenin (BMP3) gene in human populations.
BACKGROUND: Human skeletal system has evolved rapidly since the dispersal of modern humans from Africa, potentially driven by selection and adaptation. Osteogenin (BMP3) plays an important role in skeletal development and bone osteogenesis as an antagonist of the osteogenic bone morphogenetic protei...
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doaj-e7541b81e54c47b4906cfe7afe7198582020-11-25T01:48:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032010-01-0156e1095910.1371/journal.pone.0010959Evidence for positive selection on the Osteogenin (BMP3) gene in human populations.Dong-Dong WuWei JinXiao-Dan HaoNelson Leung Sang TangYa-Ping ZhangBACKGROUND: Human skeletal system has evolved rapidly since the dispersal of modern humans from Africa, potentially driven by selection and adaptation. Osteogenin (BMP3) plays an important role in skeletal development and bone osteogenesis as an antagonist of the osteogenic bone morphogenetic proteins, and negatively regulates bone mineral density. METHODOLOGY/PRINCIPAL FINDINGS: Here, we resequenced the BMP3 gene from individuals in four geographically separated modern human populations. Features supportive of positive selection in the BMP3 gene were found including the presence of an excess of nonsynonymous mutations in modern humans, and a significantly lower genetic diversity that deviates from neutrality. The prevalent haplotypes of the first exon region in Europeans demonstrated features of long-range haplotype homogeneity. In contrast with findings in European, the derived allele SNP Arg192Gln shows higher extended haplotype homozygosity in East Asian. The worldwide allele frequency distribution of SNP shows not only a high-derived allele frequency in Asians, but also in Americans, which is suggestive of functional adaptation. CONCLUSIONS/SIGNIFICANCE: In conclusion, we provide evidence for recent positive selection operating upon a crucial gene in skeletal development, which may provide new insight into the evolution of the skeletal system and bone development.http://europepmc.org/articles/PMC2881034?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dong-Dong Wu Wei Jin Xiao-Dan Hao Nelson Leung Sang Tang Ya-Ping Zhang |
spellingShingle |
Dong-Dong Wu Wei Jin Xiao-Dan Hao Nelson Leung Sang Tang Ya-Ping Zhang Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. PLoS ONE |
author_facet |
Dong-Dong Wu Wei Jin Xiao-Dan Hao Nelson Leung Sang Tang Ya-Ping Zhang |
author_sort |
Dong-Dong Wu |
title |
Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. |
title_short |
Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. |
title_full |
Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. |
title_fullStr |
Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. |
title_full_unstemmed |
Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. |
title_sort |
evidence for positive selection on the osteogenin (bmp3) gene in human populations. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2010-01-01 |
description |
BACKGROUND: Human skeletal system has evolved rapidly since the dispersal of modern humans from Africa, potentially driven by selection and adaptation. Osteogenin (BMP3) plays an important role in skeletal development and bone osteogenesis as an antagonist of the osteogenic bone morphogenetic proteins, and negatively regulates bone mineral density. METHODOLOGY/PRINCIPAL FINDINGS: Here, we resequenced the BMP3 gene from individuals in four geographically separated modern human populations. Features supportive of positive selection in the BMP3 gene were found including the presence of an excess of nonsynonymous mutations in modern humans, and a significantly lower genetic diversity that deviates from neutrality. The prevalent haplotypes of the first exon region in Europeans demonstrated features of long-range haplotype homogeneity. In contrast with findings in European, the derived allele SNP Arg192Gln shows higher extended haplotype homozygosity in East Asian. The worldwide allele frequency distribution of SNP shows not only a high-derived allele frequency in Asians, but also in Americans, which is suggestive of functional adaptation. CONCLUSIONS/SIGNIFICANCE: In conclusion, we provide evidence for recent positive selection operating upon a crucial gene in skeletal development, which may provide new insight into the evolution of the skeletal system and bone development. |
url |
http://europepmc.org/articles/PMC2881034?pdf=render |
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