ArticleImmunogenetics2004
SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex.
Article in Immunogenetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- The Genomic Organization of theFrontiers in immunology · 2021Review
- Report from the Killer-cell Immunoglobulin-like Receptors (KIR) component of the 17th International HLA and Immunogenetics Workshop.Human immunology · 2018Article
- Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews.Genes · 2018Article
- Article
- HIV-1 adaptation to NK cell-mediated immune pressure.PLoS pathogens · 2017Article
- Deciphering the killer-cell immunoglobulin-like receptor system at super-resolution for natural killer and T-cell biology.Immunology · 2017Review
- Article
- Loss and Gain of Natural Killer Cell Receptor Function in an African Hunter-Gatherer Population.PLoS genetics · 2015Article
- Novel insights in the genomic organization and hotspots of recombination in the human KIR locus through analysis of intergenic regions.Genes and immunity · 2015Article
- Definition of the cattle killer cell Ig-like receptor gene family: comparison with aurochs and human counterparts.Journal of immunology (Baltimore, Md. : 1950) · 2014Article
- Review: Immunogenetics of human placentation.Placenta · 2012Review
- A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.Human genetics · 2011Article
- KIR2DL2 enhances protective and detrimental HLA class I-mediated immunity in chronic viral infection.PLoS pathogens · 2011Article
- Inference on the strength of balancing selection for epistatically interacting loci.Theoretical population biology · 2011Article
- The emergence of human-evolutionary medical genomics.Evolutionary applications · 2011Article
- Impact of a functional KIR2DS4 allele on heterosexual HIV-1 transmission among discordant Zambian couples.The Journal of infectious diseases · 2011Article
- Article
- Linkage disequilibrium organization of the human KIR superlocus: implications for KIR data analyses.Immunogenetics · 2010Article
- Human-specific evolution and adaptation led to major qualitative differences in the variable receptors of human and chimpanzee natural killer cells.PLoS genetics · 2010Article
- Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex.Human molecular genetics · 2010Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
The human leukocyte receptor complex (LRC) of Chromosome 19q13.4 encodes polymorphic and highly homologous genes that are expressed by cells of the immune system and regulate their function. There is an enormous diversity at the LRC, most particularly the variable number of killer cell immunoglobulin-like receptor (KIR) genes. KIR have been associated with several disease processes due to their interaction with polymorphic human leukocyte antigen class I molecules. We have assessed haplotype compositions, linkage disequilibrium patterns and allele frequencies in two Caucasoid population samples (n=54, n=100), using a composite of single-nucleotide polymorphism (SNP) markers and high-resolution, allele-specific molecular genotyping. Particular KIR loci segregated with SNP and other markers, forming two blocks that were separated by a region with a greater history of recombination. The KIR haplotype composition and allele frequency distributions were consistent with KIR having been subject to balancing selection (Watterson's F: P=0.001). In contrast, there was a high inter-population heterogeneity measure for the LRC-encoded leukocyte immunoglobulin-like receptor A3 (LILRA3), indicating pathogen-driven disruptive selection (Wright's FST=0.32). An assessment of seven populations representative of African, Asian and Caucasoid ethnic groups (total n=593) provided little evidence for long-range LRC haplotypes. The different natural selection pressures acting on each locus may have contributed to a lack of linkage disequilibrium between them.
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