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Chromosome 19 LRC Haplotype Project

The human Leucocyte Receptor Complex (LRC) is located on chromosome 19q13.4 in a region spanning approximately 1.0 Mb. It comprises sets of genes encoding natural killer receptors, the Killer Immunoglobulin-like Receptors (KIR) as well as related immunoglobulin superfamily genes, with the latter including the Leucocyte Immunoglobulin-Like Receptors (LILR) and the Leucocyte-Associated Immunoglobulin-like Receptors (LAIR). The extensive haplotypic variation displayed by the KIR gene cluster results from the presence or absence of specific KIR genes alongside sequence polymorphisms in coding regions.

Some LRC receptors interact with MHC class I molecules; studies suggest that combinations of KIR alleles and their corresponding MHC class I ligands affect disease susceptibility. There is also evidence that such associations contribute to antiviral immunity, cancer, autoimmunity and complications of placentation.

We have generated extensive DNA sequence data from several human LRC haplotypes, as done for the Major Histocompatibility Complex (MHC) region focusing initially on the KIR and LILR clusters (and flanking loci). These haplotypes will facilitate future investigations into the role of the LRC in human health and disease.

In addition to the reference assembly there are eight haplotypes for the chromosome 19 LRC region in Vega. The regions are part of the Vega comparative analysis.

Relevant Publications

The LRC haplotype project: a resource for killer immunoglobulin-like receptor-linked association studies. Horton et al., Tissue Antigens. 68(5):450-452 (2006).

The extended human Leukocyte Receptor Complex: diverse ways of modulating immune responses. Barrow and Trowsdale. Immunological Reviews Immunol Rev.224:98-123 (2008).

Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex. Traherne JA, Martin M, Ward R, Ohashi M, Pellett F, Gladman D, Middleton D, Carrington M, Trowsdale J. Hum Mol Genet. 2010 Mar 1;19(5):737-51. doi: 10.1093/hmg/ddp538. Epub 2009 Dec 3. PMID: 19959527