Variation within the human killer cell immunoglobulin-like receptor (KIR) gene family.
Variation within the human killer cell immunoglobulin-like receptor (KIR) gene family.
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DOI：
10.1615/critrevimmunol.v22.i5-6.70
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发表时间：
2002
影响因子：
1.3
通讯作者：
M. Yawata;N. Yawata;L. Abi-Rached;P. Parham
中科院分区：
文献类型：
--
作者：
M. Yawata;N. Yawata;L. Abi-Rached;P. Parham
杀伤细胞免疫球蛋白样受体 (KIR) 形成高度同源的免疫受体家族，调节自然杀伤 (NK) 细胞和一些 T 细胞的反应。本文综述了人类 KIR 家族的遗传学。在人类群体中，KIR 基因型的多样性源于基因内容和等位基因多态性的变化。 81 个人类 KIR 序列的比较揭示了过去的基因复制和重组事件，并表明个体 KIR 基因在自然选择的影响下已经多样化。人群研究的比较和汇编揭示了人群内部和人群之间广泛的 KIR 基因型变异性。基因组分析显示 KIR 基因彼此靠近，并被同源序列分隔开，这些同源序列通过不对称重组促进单倍型多样化。相比之下，同源重组似乎更倾向于 KIR 基因座中心的独特序列，并且许多单倍型多样性可以通过该基因座的着丝粒和端粒半部中有限数量的基因内容基序之间的重组来解释。 NK 细胞对于早期感染防御的重要性表明，人类 KIR 基因型多样性是不同病原体对人类 NK 细胞反应的多次连续选择性发作的历史积累的结果。
The killer cell immunoglobulin-like receptors (KIR) form a family of highly homologous immune receptors that regulate the response of natural killer (NK) cells and some T cells. The genetics of the human KIR family is reviewed in this article. In human populations, diversity in KIR genotype arises from variations in gene content and allelic polymorphism. Comparisons of 81 human KIR sequences reveal past events ofgene duplication and recombination, and indicate that individual KIR genes have diversified from the influence of natural selection. Comparison and compilation of population studies reveal extensive KIR genotype variability within human populations and among them. Genomic analysis shows the KIR genes to be close to each other and separated by homologous sequences that promote haplotype diversification through assymetric recombination. In contrast, homologous recombination appears favored at a unique sequence in the center of the KIR locus, and much haplotypic diversity can be explained by recombination between a limited number of gene-content motifs in the centromeric and telomeric halves of the locus. The importance of NK cells for early defenses against infection suggests that human KIR genotype diversity is the accumulated consequence of a history of numerous and successive selective episodes by different pathogens on human NK-cell responses.