人类群体中LMBR1基因内含子5区域存在有趣的平衡选择。
Intriguing balancing selection on the intron 5 region of LMBR1 in human population.
作者信息
He Fang, Wu Dong-Dong, Kong Qing-Peng, Zhang Ya-Ping
机构信息
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
出版信息
PLoS One. 2008 Aug 13;3(8):e2948. doi: 10.1371/journal.pone.0002948.
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.
背景
基因LMBR1的内含子5是音猬因子（SHH）基因的顺式作用调节模块。该非编码区的突变与多指（趾）畸形相关，并且可能在肢体和骨骼系统的进化中起关键作用。
方法/主要发现：我们对东亚人群中LMBR1基因内含子5的一个区域进行了测序，考虑到人类群体增长，发现Tajima's D统计量显著偏离中性。来自HapMap的数据也表明，该区域在东亚和欧洲人群中存在扩展的连锁不平衡，并且人群间的遗传分化程度显著较低。
结论/意义：我们提出，LMBR1的内含子5在现代人类进化过程中可能受到平衡选择。
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