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

TitleAn ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide
Authors
KeywordsMolecular Sequence Numbers
Issue Date2006
PublisherUniversity of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Citation
American Journal of Human Genetics, 2006, v. 78 n. 3, p. 393-400 How to Cite?
AbstractThe 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. © 2006 by The American Society of Human Genetics. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/91046
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLiu, Xen_HK
dc.contributor.authorFu, Yen_HK
dc.contributor.authorLiu, Zen_HK
dc.contributor.authorLin, Ben_HK
dc.contributor.authorXie, Yen_HK
dc.contributor.authorLiu, Yen_HK
dc.contributor.authorXu, Yen_HK
dc.contributor.authorLin, Jen_HK
dc.contributor.authorFan, Xen_HK
dc.contributor.authorDong, Men_HK
dc.contributor.authorZeng, Ken_HK
dc.contributor.authorWu, C-Ien_HK
dc.contributor.authorXu, Aen_HK
dc.date.accessioned2010-09-17T10:12:14Z-
dc.date.available2010-09-17T10:12:14Z-
dc.date.issued2006en_HK
dc.identifier.citationAmerican Journal of Human Genetics, 2006, v. 78 n. 3, p. 393-400en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/91046-
dc.description.abstractThe 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. © 2006 by The American Society of Human Genetics. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherUniversity of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHGen_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.subjectMolecular Sequence Numbersen_HK
dc.titleAn ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwideen_HK
dc.typeArticleen_HK
dc.identifier.emailLin, B:blin@hku.hken_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1086/500593en_HK
dc.identifier.pmid16465617-
dc.identifier.scopuseid_2-s2.0-33344455672en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33344455672&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume78en_HK
dc.identifier.issue3en_HK
dc.identifier.spage393en_HK
dc.identifier.epage400en_HK
dc.identifier.isiWOS:000236747500007-
dc.identifier.citeulike606301-

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