現(xiàn)代人走出非洲之后,，遷移至世界各地并迅速適應(yīng)當(dāng)?shù)氐沫h(huán)境,，在這個(gè)過程中，很多表型都經(jīng)歷了適應(yīng)性進(jìn)化,。骨骼系統(tǒng)在過去10000年間伴隨著群體擴(kuò)張?jiān)谌巳褐羞M(jìn)化速率非?？欤桥c大腦發(fā)育認(rèn)知能力,、免疫生殖系統(tǒng)等不同的是,，目前有關(guān)人群中骨骼系統(tǒng)相關(guān)基因所受自然選擇作用的研究報(bào)道還很少。
據(jù)前人的研究報(bào)道：LMBR1基因intron5內(nèi)的多態(tài)位點(diǎn)與多種表型的多指癥存在相關(guān)性,，受其調(diào)控的SHH基因在骨骼系統(tǒng)發(fā)育中具有重要作用,，且該基因在靈長類中、特別是在人這一進(jìn)化枝中受到強(qiáng)烈的正選擇作用,?；诖耍瑥垇喥皆菏垦芯拷M的研究生何芳等檢測了LMBR1基因intron 5區(qū)域在41個(gè)東亞個(gè)體中的遺傳多樣性狀況,，發(fā)現(xiàn)該區(qū)域在人群中受到平衡選擇的作用,。該結(jié)果不僅說明一個(gè)與骨骼系統(tǒng)發(fā)育有關(guān)的基因調(diào)控元件在進(jìn)化歷程中受到自然選擇的作用，同時(shí)也為揭示骨骼系統(tǒng)發(fā)育過程中出現(xiàn)缺陷的遺傳機(jī)理及骨骼系統(tǒng)的進(jìn)化機(jī)制提供了重要信息,。該研究成果已發(fā)表在國際刊物《公共科學(xué)圖書館·綜合》（PLoS ONE）上,。（生物谷Bioon.com）
PLoS ONE，doi:10.1371/journal.pone.0002948,，F(xiàn)ang He,，Ya-Ping Zhang
Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
Fang He1,3, Dong-Dong Wu1,3, Qing-Peng Kong1, Ya-Ping Zhang1,2*
1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China2 Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, China3 Graduate School of the Chinese Academy of Sciences, Beijing, China
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.
