Intriguing balancing selection on the intron 5 region of LMBR1 in human population.
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ABSTRACT:
SUBMITTER: He F
PROVIDER: S-EPMC2492787 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Publications
Intriguing balancing selection on the intron 5 region of LMBR1 in human population.
He Fang F Wu Dong-Dong DD Kong Qing-Peng QP Zhang Ya-Ping YP
PloS one 20080813 8
<h4>Background</h4>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.<h4>Methodology/principal findings</h4>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 acco ...[more]
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