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Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4778-83.

Plasticity in the organization and sequences of human KIR/ILT gene families.

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  • 1Immunology Division, Department of Pathology, Tennis Court Road, Cambridge CB2 1QP, United Kingdom.


The approximately 1-Mb leukocyte receptor complex at 19q13.4 is a key polymorphic immunoregion containing all of the natural killer-receptor KIR and related ILT genes. When the organization of the leukocyte receptor complex was compared from two haplotypes, the gene content in the KIR region varied dramatically, with framework loci flanking regions of widely variable gene content. The ILT genes were more stable in number except for ILT6, which was present only in one haplotype. Analysis of Alu repeats and comparison of KIR gene sequences, which are over 90% identical, are consistent with a recent origin. KIR genesis was followed by extensive duplication/deletion as well as intergenic sequence exchange, reminiscent of MHC class I genes, which provide KIR ligands.

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