title: Human diversity in killer cell inhibitory receptor genes.
abstract: The presence and expression of killer inhibitory receptor (KIR) and CD94:NKG2 genes from 68 donors were analyzed using molecular typing techniques. The genes encoding CD94:NKG2 receptors were present in each person, but KIR gene possession varied. Most individuals expressed inhibitory KIR for the three well-defined HLA-B and -C ligands, but noninhibitory KIR genes were more variable. Twenty different KIR phenotypes were defined. Two groups of KIR haplotypes were distinguished and occurred at relatively even frequency. Group A KIR haplotypes consist of six genes: the main inhibitory KIR, one noninhibitory KIR, and a structurally divergent KIR. Allelic polymorphism within five KIR genes was detected. Group B comprises more noninhibitory KIR genes and contains at least one additional gene not represented in group A. The KIR locus therefore appears to be polygenic and polymorphic within the human population.
authors.affiliation: Department of Structural Biology, Stanford University School of Medicine, California 94305, USA.
authors.forename: M
authors.initials: M
authors.lastname: Uhrberg
authors.forename: N M
authors.initials: NM
authors.lastname: Valiante
authors.forename: B P
authors.initials: BP
authors.lastname: Shum
authors.forename: H G
authors.initials: HG
authors.lastname: Shilling
authors.forename: K
authors.initials: K
authors.lastname: Lienert-Weidenbach
authors.forename: B
authors.initials: B
authors.lastname: Corliss
authors.forename: D
authors.initials: D
authors.lastname: Tyan
authors.forename: L L
authors.initials: LL
authors.lastname: Lanier
authors.forename: P
authors.initials: P
authors.lastname: Parham
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D015870:Gene Expression; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology*; D037181:Lectins, C-Type; D008562:Membrane Glycoproteins / Q000235:genetics*; D055654:NK Cell Lectin-Like Receptor Subfamily C; D051920:NK Cell Lectin-Like Receptor Subfamily D; D012333:RNA, Messenger; D011971:Receptors, Immunologic / Q000235:genetics*; D054340:Receptors, KIR; D055607:Receptors, Natural Killer Cell
chemical_list: D015703:Antigens, CD; C527054:KLRC1 protein, human; C497869:KLRD1 protein, human; D037181:Lectins, C-Type; D008562:Membrane Glycoproteins; D055654:NK Cell Lectin-Like Receptor Subfamily C; D051920:NK Cell Lectin-Like Receptor Subfamily D; D012333:RNA, Messenger; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D055607:Receptors, Natural Killer Cell