caa a22 4500 467907641 CHVBK 20180406152839.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s00251-006-0130-5 doi (NATIONALLICENCE)springer-10.1007/s00251-006-0130-5 Nature of allelic sequence polymorphism at the KIR3DL3 locus [Elektronische Daten] [Des Jones, Susan Hiby, Ashley Moffett, John Trowsdale, Neil Young] KIR3DL3 is a framework gene of the Leukocyte Receptor Complex, present in all individuals and haplotypes analysed to date. We describe 17 novel KIR3DL3 alleles, including seven single nucleotide polymorphic (SNP) positions within the coding region. Sequence variation within introns included a VNTR within intron 1. As KIR3DL3 mRNA is known to be expressed in decidual NK cells, we investigated the impact of KIR3DL3 allelic variation on pre-eclampsia. No statistical difference in allele frequency or polymorphism was observed between pre-eclampsia patient and control cohorts. Linkage disequilibrium (LD) analysis of exonic SNPs suggested that recombination may be a mechanism of generating sequence diversity within KIR3DL3. A potential recombination hotspot was located within intron 5. A strong LD was detected between polymorphism in exon 6 of KIR3DL3 and the KIR gene −2DL3 or -2DS2 loci, which define the centromeric end of two main haplotypes (A and B) of the KIR cluster. Comparison of primate KIR sequences indicated that the Ig domains of KIR3DL3 are highly conserved between chimpanzee, gorilla and humans. Investigation of KIR3DL3 dN/dS ratios indicated a greater level of synonymous mutations consistent with purifying selection, although positive selection was detected acting on two sites within the stem region. Springer-Verlag, 2006 KIR3DL3 nationallicence Pre-eclampsia nationallicence Polymorphism nationallicence Evolution nationallicence Recombination nationallicence Jones Des Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Hiby Susan Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Moffett Ashley Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Trowsdale John Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Young Neil Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Immunogenetics Springer-Verlag 58/8(2006-08-01), 614-627 0093-7711 58:8<614 2006 58 251 https://doi.org/10.1007/s00251-006-0130-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00251-006-0130-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jones Des Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Hiby Susan Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Moffett Ashley Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Trowsdale John Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Young Neil Division of Immunology, Department of Pathology,, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 58/8(2006-08-01), 614-627 0093-7711 58:8<614 2006 58 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer