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Open Access Highly Accessed Research article

Different level of population differentiation among human genes

Dong-Dong Wu13 and Ya-Ping Zhang123*

Author affiliations

1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, PR China

2 Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091, PR China

3 Graduate School of the Chinese Academy of Sciences, Beijing, PR China

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Citation and License

BMC Evolutionary Biology 2011, 11:16  doi:10.1186/1471-2148-11-16

Published: 14 January 2011

Abstract

Background

During 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.

Results

Here, 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.

Conclusion

Our analysis demonstrates different level of population differentiation among human populations for different gene groups.