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Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population

Authors
Journal
PLoS ONE
1932-6203
Publisher
Public Library of Science
Publication Date
Volume
3
Issue
8
Identifiers
DOI: 10.1371/journal.pone.0002948
Keywords
  • Research Article
  • Genetics And Genomics/Genomics
  • Genetics And Genomics/Population Genetics
  • Evolutionary Biology/Human Evolution

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.

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