ArticleGenes and immunity2012
Conserved KIR allele-level haplotypes are altered by microvariation in individuals with European ancestry.
Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic complexity of killer-cell immunoglobulin-like receptor genes in human pangenome assemblies.Genome research · 2024Article
- Comparative genetics of KIR haplotype diversity in humans and rhesus macaques: the balancing act.Immunogenetics · 2022Article
- Association of killer cell immunoglobulin-like receptors with endemic Burkitt lymphoma in Kenyan children.Scientific reports · 2021Article
- High-Resolution Characterization ofFrontiers in immunology · 2021Article
- Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.Neurology. Genetics · 2020Article
- Estimation of German KIR Allele Group Haplotype Frequencies.Frontiers in immunology · 2020Article
- Haplotype-Based Analysis ofFrontiers in immunology · 2020Article
- Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.Frontiers in immunology · 2019Article
- Genotype B of Killer Cell Immunoglobulin-Like Receptor is Related with Gastric Cancer Lesions.Scientific reports · 2018Article
- Allelic Polymorphism Determines Surface Expression or Intracellular Retention of the Human NK Cell Receptor KIR2DL5A (CD158f).Frontiers in immunology · 2016Article
- Polymorphic HLA-C Receptors Balance the Functional Characteristics of KIR Haplotypes.Journal of immunology (Baltimore, Md. : 1950) · 2015Article
- KIR and HLA haplotype analysis in a family lacking the KIR 2DL1-2DP1 genes.Balkan journal of medical genetics : BJMG · 2015Article
- Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR.Genome medicine · 2014Article
- Allelic variation in KIR2DL3 generates a KIR2DL2-like receptor with increased binding to its HLA-C ligand.Journal of immunology (Baltimore, Md. : 1950) · 2013Article
- Recombinant structures expand and contract inter and intragenic diversification at the KIR locus.BMC genomics · 2013Article
- Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors.Genome research · 2012Article
- Allele-level haplotype frequencies and pairwise linkage disequilibrium for 14 KIR loci in 506 European-American individuals.PloS one · 2012Article
- KIR2DL5: An Orphan Inhibitory Receptor Displaying Complex Patterns of Polymorphism and Expression.Frontiers in immunology · 2012Article
- Significant association of KIR2DL3-HLA-C1 combination with cerebral malaria and implications for co-evolution of KIR and HLA.PLoS pathogens · 2012Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
NK cell immunoglobulin-like receptor (KIR) haplotype-specific DNA fragments were sequenced to identify centromeric and telomeric allele-level haplotype structures and their frequencies from 76 unrelated individuals with European ancestry. Analysis was simplified by redefining the 5' boundary of the centromeric KIR gene cluster to include only exons 7-9 of KIR3DL3. Three consensus allele-level haplotypes were identified for a centromeric gene presence/absence structure designated as Cen-A1. KIR3DL3*00201 (exons 7-9)∼KIR2DL3*001∼KIR2DL1*00302 was the most frequent (37.5%) centromeric structure. Single consensus haplotypes were observed for haplotype structures Cen-B1 and Cen-B2. Six Tel-A1 and two Tel-B1 consensus haplotypes were observed; the most prevalent (23.0%) was KIR2DL4*00102∼KIR3DL1*002∼KIR2DS4*00101∼KIR3DL2*002. A small number of nucleotide substitutions (≤3) in the coding regions of the functional KIR genes created microvariants of the consensus haplotypes. Eight less common haplotype structures were also detected. Four carried hybrid genes formed during gene deletion events, two carried an insertion with a 2DL5/3DP1 fusion gene and two included a very large insertion. These data show that the KIR gene complex is composed of a limited number of conserved allele-level centromeric and telomeric haplotypes that have diversified by mutation, recombination within a locus and unequal crossing over.
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