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


RESULTS
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.


CONCLUSIONS
We proposed that the intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human.
He
Fang
F
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Wu
Dong-Dong
DD
Kong
Qing-Peng
QP
Zhang
Ya-Ping
YP
D044466:Asian People / Q000235:genetics*; D044383:Black People / Q000235:genetics; D017931:DNA Primers; D005202:Asia, Eastern; D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics*; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D012641:Selection, Genetic; D044465:White People / Q000235:genetics
D017931:DNA Primers; C485955:LMBR1 protein, human; D008565:Membrane Proteins