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| The killer cell immunoglobulin-like receptor (KIR) genomic region: gene-order, haplotypes and allelic polymorphism |
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| Author(s): Hsu KC, Chida S, Dupont B, Geraghty DE |
| Source: IMMUNOLOGICAL REVIEWS Volume: 190 Issue: 1 Pages: 40-52 Published: DEC 2002 |
| Times Cited: 123 References: 84 |
| Abstract: Recent genetic studies have established that the killer cell immunoglobulin-like receptor (KIR) genomic region displays extensive diversity through variation in gene content and allelic polymorphism within individual KIR genes. It is demonstrated by family segregation analysis, genomic sequencing, and gene order determination that genomic diversity by gene content alone gives rise to more than 20 different KIR haplotypes and at least 40-50 KIR genotypes. In the most reductionist format, KIR haplotypes can be accommodated within one of 10 different prototypes, each with multiple permutations. Our haplotype model considers the KIR haplotype as two separate halves: the centromeric half bordered upstream by KIR3DL3 and downstream by 2DL4, and the telomeric half bordered upstream by 2DL4 and downstream by 3DL2. There are rare KIR haplotypes that do not fit into this model. Recombination, gene duplication, and inversion can however, readily explain these haplotypes. Additional allelic polymorphism imposes extensive individual variability. Accordingly, this segment of the human genome displays a level of diversity similar to the one observed for the human major histocompatibility complex. Recent application of immunogenetic analysis of KIR genes in patient populations implicates these genes as important genetic disease susceptibility factors. |
| Document Type: Review |
| Language: English |
| Reprint Address: Dupont, B (reprint author), Mem Sloan Kettering Canc Ctr, Sloan Kettering Inst Canc Res, Immunogenet Lab, Program Immunol, 1275 York Ave, New York, NY 10021 USA |
Addresses:
1. Mem Sloan Kettering Canc Ctr, Sloan Kettering Inst Canc Res, Immunogenet Lab, Program Immunol, New York, NY 10021 USA
2. Fred Hutchinson Canc Res Ctr, Div Clin Res, Seattle, WA 98104 USA |
| Publisher: BLACKWELL MUNKSGAARD, 35 NORRE SOGADE, PO BOX 2148, DK-1016 COPENHAGEN, DENMARK |
| Subject Category: Immunology |
| IDS Number: 627QU |
| ISSN: 0105-2896 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |