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Evidence for Positive Selection on the Osteogenin (BMP3) Gene in Human Populations
- Source :
- PLoS ONE, PLoS ONE, Vol 5, Iss 6, p e10959 (2010)
- Publication Year :
- 2010
- Publisher :
- Public Library of Science (PLoS), 2010.
-
Abstract
- 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.
- Subjects :
- Nonsynonymous substitution
lcsh:Medicine
Population genetics
Bone Morphogenetic Protein 3
Bone morphogenetic protein 3
Polymorphism, Single Nucleotide
Gene Frequency
Genetics and Genomics/Population Genetics
Humans
Selection, Genetic
Allele
lcsh:Science
Allele frequency
Genetics
Bone Development
Multidisciplinary
Natural selection
Evolutionary Biology/Evolutionary and Comparative Genetics
biology
Human evolutionary genetics
lcsh:R
Homozygote
Haplotype
Biological Evolution
Evolutionary Biology/Human Evolution
Haplotypes
Mutation
biology.protein
lcsh:Q
Research Article
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....450cd0c32e8cad4105a9df34c2c1e4ec