Positive Darwinian selection in human population: A review

Wu, Dongdong; Zhang, Yaping

doi:10.1007/s11434-008-0202-z

Cited by 5 publications

(7 citation statements)

References 101 publications

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“…Immunity-related genes, however, which are a common target of positive selection [ 2 , 15 , 16 ], are involved in small list of categories with a higher proportion of higher F ST SNPs. This observation is probably attributable to the fact that many of the genes in the immunity system evolve under balancing selection in human populations for a heterozygote advantage, which would reduce the level of population differentiation [ 17 , 18 ].…”

Section: Resultsmentioning

confidence: 99%

Different level of population differentiation among human genes

Zhang

2011

BMC Evol Biol

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BackgroundDuring the colonization of the world, after dispersal out of African, modern humans encountered changeable environments and substantial phenotypic variations that involve diverse behaviors, lifestyles and cultures, were generated among the different modern human populations.ResultsHere, we study the level of population differentiation among different populations of human genes. Intriguingly, genes involved in osteoblast development were identified as being enriched with higher FST SNPs, a result consistent with the proposed role of the skeletal system in accounting for variation among human populations. Genes involved in the development of hair follicles, where hair is produced, were also found to have higher levels of population differentiation, consistent with hair morphology being a distinctive trait among human populations. Other genes that showed higher levels of population differentiation include those involved in pigmentation, spermatid, nervous system and organ development, and some metabolic pathways, but few involved with the immune system. Disease-related genes demonstrate excessive SNPs with lower levels of population differentiation, probably due to purifying selection. Surprisingly, we find that Mendelian-disease genes appear to have a significant excessive of SNPs with high levels of population differentiation, possibly because the incidence and susceptibility of these diseases show differences among populations. As expected, microRNA regulated genes show lower levels of population differentiation due to purifying selection.ConclusionOur analysis demonstrates different level of population differentiation among human populations for different gene groups.

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Section: Resultsmentioning

confidence: 99%

Different level of population differentiation among human genes

Zhang

2011

BMC Evol Biol

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“…The complexity in the class C GPCR VFTMs consequently arose the biological complexity by a stepwise Darwinian process. In addition, further evidence indicate that positive Darwinian selection played an indispensable role in the origin and evolution of the genes involved in brain development and perception [ 27 ]. Our results provide an important insight on how the role of positive selection has a strong effect on the development on the evolutionary process of the class C GPCR VFTM domains.…”

Section: Discussionmentioning

confidence: 99%

Evolution of the class C GPCR Venus flytrap modules involved positive selected functional divergence

et al. 2009

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Background: Class C G protein-coupled receptors (GPCRs) represent a distinct group of the GPCR family, which structurally possess a characteristically distinct extracellular domain inclusive of the Venus flytrap module (VFTM). The VFTMs of the class C GPCRs is responsible for ligand recognition and binding, and share sequence similarity with bacterial periplasmic amino acid binding proteins (PBPs). An extensive phylogenetic investigation of the VFTMs was conducted by analyzing for functional divergence and testing for positive selection for five typical groups of the class C GPCRs. The altered selective constraints were determined to identify the sites that had undergone functional divergence via positive selection. In order to structurally demonstrate the pattern changes during the evolutionary process, three-dimensional (3D) structures of the GPCR VFTMs were modelled and reconstructed from ancestral VFTMs.

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“…In addition, modern humans exhibit substantial phenotypic variation, e.g., susceptibility to diseases, metabolism, skin pigmentation, eye and hair color, body mass, height, and craniofacial differences shaped by the skeletal system. Many studies have examined the genetic bases of the evolutionary patterns of these phenotypes and have identified the role of positive selection on genes in processes such as brain development in the human lineage and skin pigmentation among modern human populations (reviewed in [2] , [3] ). Similarly, in our previous studies we had concluded that positive selection in human skeletal genes had driven population differentiation in non-African populations [4] , and identified a few skeletal genes that were subjected to this natural selection [5] , [6] .…”

Section: Introductionmentioning

confidence: 99%

Positive Selection on the Osteoarthritis-Risk and Decreased-Height Associated Variants at the GDF5 Gene in East Asians

Jin

et al. 2012

PLoS ONE

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GDF5 is a member of the bone morphogenetic protein (BMP) gene family, and plays an important role in the development of the skeletal system. Variants of the gene are associated with osteoarthritis and height in some human populations. Here, we resequenced the gene in individuals from four geographically separated human populations, and found that the evolution of the promoter region deviated from neutral expectations, with the sequence evolution driven by positive selection in the East Asian population, especially the haplotypes carrying the derived alleles of 5′ UTR SNPs rs143384 and rs143383. The derived alleles of rs143384 and rs143383, which are associated with a risk of osteoarthritis and decreased height, have high frequencies in non-Africans and show strong extended haplotype homozygosity and high population differentiation in East Asian. It is concluded that positive selection has driven the rapid evolution of the two osteoarthritis osteoarthritis-risk and decreased height associated variants of the human GDF5 gene, and supports the suggestion that the reduction in body size during the terminal Pleistocene and Holocene period might have been an adaptive process influenced by genetic factors.

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Positive Darwinian selection in human population: A review

Cited by 5 publications

References 101 publications

Different level of population differentiation among human genes

Different level of population differentiation among human genes

Evolution of the class C GPCR Venus flytrap modules involved positive selected functional divergence

Positive Selection on the Osteoarthritis-Risk and Decreased-Height Associated Variants at the GDF5 Gene in East Asians

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