Article citations

    Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, et al. (2007) Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet A 143: 27–32.

has been cited by the following article:

  • TITLE: Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
  • AUTHORS: Fang He, Dong-Dong Wu, Qing-Peng Kong, Ya-Ping Zhang
  • JOURNAL NAME: PLOS ONE DOI: 10.1371/journal.pone.0002948 Aug 29, 2014
  • 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.