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Review
. 2010 Jan;129(1):8-19.
doi: 10.1111/j.1365-2567.2009.03208.x.

The extensive polymorphism of KIR genes

Derek Middleton  1 , Faviel Gonzelez
Affiliations
Review

The extensive polymorphism of KIR genes

Derek Middleton et al. Immunology. 2010 Jan.

Abstract

The functions of human natural killer (NK) cells are controlled by diverse families of antigen receptors. Prominent among these are the killer cell immunoglobulin-like receptors (KIR), a family of genes clustered in one of the most variable regions of the human genome. Within this review we discuss the vast polymorphism of the KIR gene complex which rivals that of the human leucocyte antigen (HLA) complex. There are several aspects to this polymorphism. Initially there is presence/absence of individual KIR genes, with four of these genes, termed framework genes, being present in all individuals tested to date, except on those very occasional instances when the gene has been deleted. Within each gene, alleles are present at different frequencies. We provide details of a new website that enables convenient searching for data on KIR gene, allele and genotype frequencies in different populations and show how these frequencies vary in different worldwide populations and the high probability of individuals differing in their KIR repertoire when both gene and allele polymorphism is considered. The KIR genes present in an individual may be classified into A and/or B haplotypes, which respectively have a more inhibitory role or a more activating role on the function of the NK cell. Family studies have been used to ascertain the make-up of these haplotypes, inclusion of allele typing enabling determination of whether one or two copies of a particular gene is present. In addition to genetic diversification the KIR gene complex shows differences at the functional level with different alleles having different protein expression levels and different avidity with their HLA ligand.

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Figures

Figure 1
Figure 1
Nomenclature of killer cell immunoglobulin-like receptors (KIR) genes and alleles.
Figure 3
Figure 3
Most common killer cell immunoglobulin-like receptors (KIR) genotypes reported in http://www.allelefrequencies.net.
Figure 2
Figure 2
Killer cell immunoglobulin-like receptors (KIR) allele frequency search.
Figure 5
Figure 5
Killer cell immunoglobulin-like receptors (KIR) genotype search.
Figure 4
Figure 4
Two groups of killer cell immunoglobulin-like receptors (KIR) haplotypes (a and b).
Figure 6
Figure 6
Global phenotype frequencies of 3DS1.
See this image and copyright information in PMC

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