Uhrberg Markus
Institute for Transplantation Diagnostics and Cell Therapeutics, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.
Eur J Immunol. 2005 Jan;35(1):10-5. doi: 10.1002/eji.200425743.
A hallmark of human NK cells is the expression of HLA class I-specific killer-cell immunoglobulin-like receptors (KIR). An interesting facet of the KIR family is the unusual variability of the respective gene cluster, which is changing shape at an astonishing evolutionary pace. Not only do KIR genes come in different allelic variants, but the KIR locus has also gone through drastic contractions and expansions in recent evolutionary history, resulting in a wide variety of KIR haplotypes. A new study now reveals how an originally nonfunctional KIR pseudogene, KIR3DP1, is brought back to life in certain individuals via non-reciprocal recombination between two different KIR haplotypes. This Commentary outlines how the unique architecture of the KIR locus facilitates the generation of new KIR haplotypes and discusses the functional relevance of it.
人类自然杀伤细胞（NK细胞）的一个标志是表达HLA I类特异性杀伤细胞免疫球蛋白样受体（KIR）。KIR家族一个有趣的方面是其各自基因簇具有异常的变异性，正以惊人的进化速度改变形态。KIR基因不仅存在不同的等位基因变体，而且KIR基因座在最近的进化史上还经历了剧烈的收缩和扩张，导致了各种各样的KIR单倍型。一项新的研究现在揭示了一个原本无功能的KIR假基因KIR3DP1是如何通过两种不同KIR单倍型之间的非互惠重组在某些个体中重获功能的。本述评概述了KIR基因座的独特结构如何促进新KIR单倍型的产生，并讨论了其功能相关性。
