An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide. Export

@article{citeulike:606301, abstract = {The coding regions of many of the major histocompatibility complex (MHC) (human leukocyte antigen [HLA] in humans) molecules are believed to be subject to balancing selection. But it is less certain whether the regulatory regions of such coding sequences are also subject to the same type of selection. Here, we studied the polymorphism of the regulatory regions of the HLA-DPA1 and HLA-DPB1 genes among ethnic minorities in southwestern China. Phylogenetic analysis revealed two deep clades >10 million years old. There is almost complete linkage disequilibrium between the regulatory and coding regions of HLA-DPA1, which hints at coadaptive balancing selection on the entire region. Thus, the molecular mechanism of balancing selection in MHC may involve expression modulation in addition to coding-region polymorphisms. Although the frequency of clade II is >30\% in some ethnic minorities, it decreases to <5\% among southern Han Chinese and vanishes among Europeans. As suspected, some ancient balanced polymorphisms, lost in major populations, still exist in isolated ethnicities. These isolated populations may thus contribute disproportionately to the total diversity of modern humans.}, address = {State Key Laboratory for Biocontrol, Department of Biochemistry, Key Laboratory of Genetic Engineering of the Ministry of Education, College of Life Sciences, Sun Yat-sen Zhongshan University, Guangzhou, China.}, author = {Liu, X. and Fu, Y. and Liu, Z. and Lin, B. and Xie, Y. and Liu, Y. and Xu, Y. and Lin, J. and Fan, X. and Dong, M. and Zeng, K. and Wu, C. I. and Xu, A.}, citeulike-article-id = {606301}, citeulike-linkout-0 = {http://dx.doi.org/10.1086/500593}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/16465617}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=16465617}, doi = {10.1086/500593}, issn = {0002-9297}, journal = {Am J Hum Genet}, keywords = {10\_million\_years, admixture, archaic, autosomal, chinese, dpa1020202, dpa10401, erectus, hla-dpa1, hominid, lahu, mhc, minorities, mosuo, naxi, polymorphism, yao, yunnan}, month = {March}, number = {3}, pages = {393--400}, posted-at = {2006-04-29 13:47:42}, priority = {5}, title = {An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide.}, url = {http://dx.doi.org/10.1086/500593}, volume = {78}, year = {2006} }

TY - JOUR ID - citeulike:606301 L3 - citeulike-article-id:606301 N2 - The coding regions of many of the major histocompatibility complex (MHC) (human leukocyte antigen [HLA] in humans) molecules are believed to be subject to balancing selection. But it is less certain whether the regulatory regions of such coding sequences are also subject to the same type of selection. Here, we studied the polymorphism of the regulatory regions of the HLA-DPA1 and HLA-DPB1 genes among ethnic minorities in southwestern China. Phylogenetic analysis revealed two deep clades >10 million years old. There is almost complete linkage disequilibrium between the regulatory and coding regions of HLA-DPA1, which hints at coadaptive balancing selection on the entire region. Thus, the molecular mechanism of balancing selection in MHC may involve expression modulation in addition to coding-region polymorphisms. Although the frequency of clade II is >30% in some ethnic minorities, it decreases to <5% among southern Han Chinese and vanishes among Europeans. As suspected, some ancient balanced polymorphisms, lost in major populations, still exist in isolated ethnicities. These isolated populations may thus contribute disproportionately to the total diversity of modern humans. IS - 3 JF - Am J Hum Genet SN - 0002-9297 AD - State Key Laboratory for Biocontrol, Department of Biochemistry, Key Laboratory of Genetic Engineering of the Ministry of Education, College of Life Sciences, Sun Yat-sen Zhongshan University, Guangzhou, China. EP - 400 TI - An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide. VL - 78 SP - 393 KW - 10_million_years KW - admixture KW - archaic KW - autosomal KW - chinese KW - dpa1020202 KW - dpa10401 KW - erectus KW - hla-dpa1 KW - hominid KW - lahu KW - mhc KW - minorities KW - mosuo KW - naxi KW - polymorphism KW - yao KW - yunnan AU - Liu, X AU - Fu, Y AU - Liu, Z AU - Lin, B AU - Xie, Y AU - Liu, Y AU - Xu, Y AU - Lin, J AU - Fan, X AU - Dong, M AU - Zeng, K AU - Wu, CI AU - Xu, A PY - 2006/03// UR - http://dx.doi.org/10.1086/500593 ER -