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

• Published in: PloS one Vol. 3; no. 8; p. e2948
• Main Authors: He, Fang, Wu, Dong-Dong, Kong, Qing-Peng, Zhang, Ya-Ping
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 13.08.2008; Public Library of Science (PLoS)
• Subjects: African Continental Ancestry Group - genetics; Asian Continental Ancestry Group - genetics; Bioinformatics; Demography; DNA Primers; European Continental Ancestry Group - genetics; Evolution; Evolutionary biology; Evolutionary Biology/Human Evolution; Far East; Fingers & toes; Genes; Genetic aspects; Genetic Variation; Genetics and Genomics/Genomics; Genetics and Genomics/Population Genetics; Genomes; Haplotypes; Hedgehog protein; Human populations; Humans; Introns - genetics; Laboratories; Linkage Disequilibrium; Membrane Proteins - genetics; Mutation; Pathogens; Polydactyly; Population genetics; Population growth; Population statistics; Selection, Genetic; Skeletal system; Zoology; Far East; Beijing China; China
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0002948

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