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PLoS One. 2008 Aug 13;3(8):e2948. doi: 10.1371/journal.pone.0002948.

Intriguing balancing selection on the intron 5 region of LMBR1 in human population.

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

Abstract

BACKGROUND:

The intron 5 of gene LMBR1 is the cis-acting regulatory module for the sonic hedgehog (SHH) gene. Mutation in this non-coding region is associated with preaxial polydactyly, and may play crucial roles in the evolution of limb and skeletal system.

METHODOLOGY/PRINCIPAL FINDINGS:

We sequenced a region of the LMBR1 gene intron 5 in East Asian human population, and found a significant deviation of Tajima's D statistics from neutrality taking human population growth into account. Data from HapMap also demonstrated extended linkage disequilibrium in the region in East Asian and European population, and significantly low degree of genetic differentiation among human populations.

CONCLUSION/SIGNIFICANCE:

We proposed that the intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human.

PMID:
18698406
PMCID:
PMC2492787
DOI:
10.1371/journal.pone.0002948
[Indexed for MEDLINE]
Free PMC Article
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