ArticleAmerican journal of human genetics2006
An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 17 citations in OpenAlex.
- HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM.Immunogenetics · 2021Article
- Cis-regulatory evolution in a wild primate: Infection-associated genetic variation drives differential expression of MHC-DQA1 in vitro.Molecular ecology · 2017Article
- Population Genetics and Natural Selection in Rheumatic Disease.Rheumatic diseases clinics of North America · 2017Review
- Genetics of autoimmune diseases: insights from population genetics.Journal of human genetics · 2015Review
- Genes associated with SLE are targets of recent positive selection.Autoimmune diseases · 2014Review
- A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.Human genetics · 2011Article
- Nasopharyngeal carcinoma as a paradigm of cancer genetics.Chinese journal of cancer · 2011Article
- HLA-DRB1 may be antagonistically regulated by the coordinately evolved promoter and 3'-UTR under stabilizing selection.PloS one · 2011Article
- Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene.Human genetics · 2010Article
- Regulation of major histocompatibility complex class II gene expression, genetic variation and disease.Genes and immunity · 2010Review
- Human MHC architecture and evolution: implications for disease association studies.International journal of immunogenetics · 2008Review
- The signature of long-standing balancing selection at the human defensin beta-1 promoter.Genome biology · 2008Article
- Ascertainment bias and the pattern of nucleotide diversity at the human ALDH2 locus in a Japanese population.Journal of molecular evolution · 2007Article
- Ancient polymorphism and functional variation in the primate MHC-DQA1 5' cis-regulatory region.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
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Authors and funding
13 authors at 3 institutions in 2 countries.
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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.
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