PMID- 16465617
OWN - NLM
STAT- MEDLINE
DCOM- 20060425
LR  - 20221207
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 78
IP  - 3
DP  - 2006 Mar
TI  - An ancient balanced polymorphism in a regulatory region of human major 
      histocompatibility complex is retained in Chinese minorities but lost worldwide.
PG  - 393-400
AB  - 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.
FAU - Liu, Xiaoyi
AU  - Liu X
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.
FAU - Fu, Yonggui
AU  - Fu Y
FAU - Liu, Zehuan
AU  - Liu Z
FAU - Lin, Bin
AU  - Lin B
FAU - Xie, Yi
AU  - Xie Y
FAU - Liu, Yin
AU  - Liu Y
FAU - Xu, Yunpin
AU  - Xu Y
FAU - Lin, Jianghai
AU  - Lin J
FAU - Fan, Xinlan
AU  - Fan X
FAU - Dong, Meiling
AU  - Dong M
FAU - Zeng, Kai
AU  - Zeng K
FAU - Wu, Chung-I
AU  - Wu CI
FAU - Xu, Anlong
AU  - Xu A
LA  - eng
SI  - GENBANK/AY335526
SI  - GENBANK/AY335527
SI  - GENBANK/AY335528
SI  - GENBANK/AY335529
SI  - GENBANK/AY335530
SI  - GENBANK/AY335531
SI  - GENBANK/AY335532
SI  - GENBANK/AY335533
SI  - GENBANK/AY335534
SI  - GENBANK/AY335535
SI  - GENBANK/AY335536
SI  - GENBANK/AY335537
SI  - GENBANK/AY335538
SI  - GENBANK/AY335539
SI  - GENBANK/AY335540
SI  - GENBANK/AY335541
SI  - GENBANK/AY335542
SI  - GENBANK/AY335543
SI  - GENBANK/AY335544
SI  - GENBANK/AY603382
SI  - GENBANK/AY603383
SI  - GENBANK/AY603384
SI  - GENBANK/AY603385
SI  - GENBANK/AY603386
SI  - GENBANK/AY603387
SI  - GENBANK/AY603388
SI  - GENBANK/AY603389
SI  - GENBANK/AY603390
SI  - GENBANK/AY603391
SI  - GENBANK/AY603392
SI  - GENBANK/AY603393
SI  - GENBANK/AY603394
SI  - GENBANK/AY603395
GR  - R01 GM058686/GM/NIGMS NIH HHS/United States
GR  - R01 GM063144/GM/NIGMS NIH HHS/United States
GR  - GM063144/GM/NIGMS NIH HHS/United States
GR  - GM58686/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20060119
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (HLA-DP Antigens)
RN  - 0 (HLA-DP alpha-Chains)
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPA1 antigen)
RN  - 0 (HLA-DPB1 antigen)
SB  - IM
MH  - Amino Acid Sequence
MH  - Asian People/*genetics
MH  - Genes, MHC Class II/*genetics
MH  - HLA-DP Antigens/classification/*genetics
MH  - HLA-DP alpha-Chains
MH  - HLA-DP beta-Chains
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Molecular Sequence Data
MH  - Open Reading Frames/genetics
MH  - Phylogeny
MH  - *Polymorphism, Genetic
MH  - Regulatory Elements, Transcriptional/*genetics
PMC - PMC1380283
EDAT- 2006/02/09 09:00
MHDA- 2006/04/28 09:00
PMCR- 2006/09/01
CRDT- 2006/02/09 09:00
PHST- 2005/07/15 00:00 [received]
PHST- 2005/12/13 00:00 [accepted]
PHST- 2006/02/09 09:00 [pubmed]
PHST- 2006/04/28 09:00 [medline]
PHST- 2006/02/09 09:00 [entrez]
PHST- 2006/09/01 00:00 [pmc-release]
AID - S0002-9297(07)62379-9 [pii]
AID - 42766 [pii]
AID - 10.1086/500593 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2006 Mar;78(3):393-400. doi: 10.1086/500593. Epub 2006 Jan 19.