PMID- 17646980 OWN - NLM STAT- MEDLINE DCOM- 20071213 LR - 20181113 IS - 0093-7711 (Print) IS - 0093-7711 (Linking) VI - 59 IP - 10 DP - 2007 Oct TI - Chain-terminating natural mutations affect the function of activating KIR receptors 3DS1 and 2DS3. PG - 779-92 AB - To determine the nucleotide polymorphism of activating killer-cell immunoglobulin-like receptors (aKIR) 3DS1 and 2DS3, we developed a novel direct-sequencing method and analyzed DNA samples of 175 KIR3DS1(+) individuals and 72 KIR2DS3(+) individuals from the white population. The putative ligand-binding extracellular immunoglobulin (Ig)-like domains of these aKIR receptors are highly conserved, a scenario contrary to inhibitory KIRs that recognize polymorphic human leukocyte antigen (HLA) class I molecules. Null alleles 3DS1*049N and 2DS3*003N that do not express cell-surface receptors were discovered, and they occur commonly in whites (3DS1*049N = 2%; 2DS3*003N = 0.8%). Sequence-specific polymerase chain reaction (PCR) detecting these null alleles is negative with DNA from nonwhite subjects, suggesting that these null alleles are specific to whites and probably originated after the colonization of modern humans in Europe. FAU - Luo, Lihui AU - Luo L AD - UCLA Immunogenetics Center, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095-1652, USA. FAU - Du, Zeying AU - Du Z FAU - Sharma, Surendra K AU - Sharma SK FAU - Cullen, Rebecca AU - Cullen R FAU - Spellman, Stephen AU - Spellman S FAU - Reed, Elaine F AU - Reed EF FAU - Rajalingam, Raja AU - Rajalingam R LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. DEP - 20070724 PL - United States TA - Immunogenetics JT - Immunogenetics JID - 0420404 RN - 0 (DNA Primers) RN - 0 (Histocompatibility Antigens Class I) RN - 0 (KIR2DS3 protein, human) RN - 0 (Receptors, KIR) RN - 0 (Receptors, KIR3DS1) SB - IM MH - Amino Acid Sequence MH - Base Sequence MH - DNA Primers MH - Gene Expression Regulation/immunology MH - Histocompatibility Antigens Class I/immunology MH - Humans MH - Killer Cells, Natural/*immunology MH - Linkage Disequilibrium MH - Molecular Sequence Data MH - *Mutation MH - Polymerase Chain Reaction MH - Polymorphism, Genetic MH - Receptors, KIR/*genetics/immunology MH - Receptors, KIR3DS1/*genetics/immunology MH - Sequence Analysis/*methods EDAT- 2007/07/25 09:00 MHDA- 2007/12/14 09:00 CRDT- 2007/07/25 09:00 PHST- 2007/03/15 00:00 [received] PHST- 2007/06/01 00:00 [accepted] PHST- 2007/07/25 09:00 [pubmed] PHST- 2007/12/14 09:00 [medline] PHST- 2007/07/25 09:00 [entrez] AID - 10.1007/s00251-007-0239-1 [doi] PST - ppublish SO - Immunogenetics. 2007 Oct;59(10):779-92. doi: 10.1007/s00251-007-0239-1. Epub 2007 Jul 24.