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POLYMORPHISM IN THE NATURAL CYTOTOXICITY RECEPTORS(NCR) NKp30, NKp44 AND NKp46A PRELIMINARY STUDY.
Michael A. Clare BSc Hons , Robert Collins Bsc Msc and Robert Vaughan PhD . 1 Clinical Transplantation, Guy's Hospital, London, United Kingdom .
Natural killer (NK) cells are important effectors of the innate immune response whose functions are controlled by a number of different receptors. One group of human NK receptors are known as natural cytotoxicity receptors (NCR) and function as activating receptors in NK cytotoxicity. There are three NCR loci - NKp46 (NCR1) maps on chromosome 19q13.42 in the Leucocyte Receptor Complex telomeric to the KIR multigene family, NKp44 (NCR2) maps on chromosome 6p21.1 centromeric of the MHC and NKp30 (NCR3) maps to chromosome 6p21.32 within the MHC (1).
Although the NCR ligands are not well understood it is likely that they are involved in resistance to viral infection (2). This property, together with their proximity to two major leucocyte gene receptor complexes prompted us to look at the genetic polymorphism of these receptors. A number of non-synonymous SNPs which could potentially affect receptor binding were identified on the NCBI database, one in the NCR1 gene, four in NCR2 and two in NCR3. Primers were designed to identify these polymorphisms and initially used to investigate the population frequencies in a UK Caucasoid population, with the aim of further work on disease associations.
RESULTS % % NCR1 Lys82Gln Lys 93 Gln 7 NCR2 Ser139Pro Ser 51 Pro 49 Ile218Lys Ile 96 Lys 4 Met223Val Met 26 Val 74 Met75Val Met 91 Val 9 NCR3 Arg174Ser Arg 98 Ser 2 Ala103Thr Ala 97 Thr 3
1. R. Biassoni et al (2003) J. Cell. Mol. Med 7(4): 376-387
2. TI Arnon et al (2005) Nature Immunology 6(5): 515-523