Duplication, mutation and recombination of the human orphan gene KIR2DS3 contribute to the diversity of KIR haplotypes (original) (raw)

• Wilson MJ, Torkar M, Haude A, Milne S, Jones T, Sheer D et al. Plasticity in the organization and sequences of human KIR/ILT gene families. Proc Natl Acad Sci USA 2000; 97: 4778–4783.
  Article CAS PubMed PubMed Central Google Scholar
• Martin AM, Freitas EM, Witt CS, Christiansen FT . The genomic organization and evolution of the natural killer immunoglobulin-like receptor (KIR) gene cluster. Immunogenetics 2000; 51: 268–280.
  Article CAS PubMed Google Scholar
• Colonna M, Samaridis J . Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. Science 1995; 268: 405–408.
  Article CAS PubMed Google Scholar
• Wagtmann N, Biassoni R, Cantoni C, Verdiani S, Malnati MS, Vitale M et al. Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains. Immunity 1995; 2: 439–449.
  Article CAS PubMed Google Scholar
• Moretta L, Moretta A . Killer immunoglobulin-like receptors. Curr Opin Immunol 2004; 16: 626–633.
  Article CAS PubMed Google Scholar
• Vilches C, Parham P . KIR: Diverse, rapidly evolving receptors of innate and adaptive immunity. Annu Rev Immunol 2002; 20: 217–251.
  CAS PubMed Google Scholar
• Karre K . How to recognize a foreign submarine. Immunol Rev 1997; 155: 5–9.
  Article CAS PubMed Google Scholar
• Biassoni R, Cantoni C, Falco M, Verdiani S, Bottino C, Vitale M et al. The human leukocyte antigen (HLA)-C-specific ‘activatory’ or ‘inhibitory’ natural killer cell receptors display highly homologous extracellular domains but differ in their transmembrane and intracytoplasmic portions. J Exp Med 1996; 183: 645–650.
  Article CAS PubMed Google Scholar
• Biassoni R, Pessino A, Malaspina A, Cantoni C, Bottino C, Sivori S et al. Role of amino acid position 70 in the binding affinity of p50.1 and p58.1 receptors for HLA-Cw4 molecules. Eur J Immunol 1997; 27: 3095–3099.
  Article CAS PubMed Google Scholar
• Winter CC, Gumperz JE, Parham P, Long EO, Wagtmann N . Direct binding and functional transfer of NK cell inhibitory receptors reveal novel patterns of HLA-C allotype recognition. J Immunol 1998; 161: 571–577.
  CAS PubMed Google Scholar
• Dohring C, Samaridis J, Colonna M . Alternatively spliced forms of human killer inhibitory receptors. Immunogenetics 1996; 44: 227–230.
  Article CAS PubMed Google Scholar
• Norman PJ, Abi-Rached L, Gendzekhadze K, Korbel D, Gleimer M, Rowley D et al. Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans. Nat Genet 2007; 39: 1092–1099; e-pub 12 Aug 2007.
  Article CAS PubMed Google Scholar
• Marsh SG, Parham P, Dupont B, Geraghty DE, Trowsdale J, Middleton D et al. Killer-cell immunoglobulin-like receptor (KIR) nomenclature report, 2002. Tissue Antigens 2003; 62: 79–86.
  Article CAS PubMed Google Scholar
• Uhrberg M, Valiante NM, Shum BP, Shilling HG, Lienert-Weidenbach K, Corliss B et al. Human diversity in killer cell inhibitory receptor genes. Immunity 1997; 7: 753–763.
  Article CAS PubMed Google Scholar
• Middleton D, Meenagh A, Moscoso J, Arnaiz-Villena A . Killer immunoglobulin receptor gene and allele frequencies in Caucasoid, Oriental and Black populations from different continents. Tissue Antigens 2008; 71: 105–113.
  Article CAS PubMed Google Scholar
• Middleton D, Meenagh A, Gourraud PA . KIR haplotype content at the allele level in 77 Northern Irish families. Immunogenetics 2007; 59: 145–158.
  Article CAS PubMed Google Scholar
• Robinson J, Waller MJ, Fail SC, Marsh SG . The IMGT/HLA and IPD databases. Hum Mutat 2006; 27: 1192–1199.
  Article CAS PubMed Google Scholar
• Valiante NM, Uhrberg M, Shilling HG, Lienert-Weidenbach K, Arnett KL, D'Andrea A et al. Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors. Immunity 1997; 7: 739–751.
  Article CAS PubMed Google Scholar
• Yawata M, Yawata N, Draghi M, Little AM, Partheniou F, Parham P . Roles for HLA and KIR polymorphisms in natural killer cell repertoire selection and modulation of effector function. J Exp Med 2006; 203: 633–645.
  Article CAS PubMed PubMed Central Google Scholar
• Luo L, Du Z, Sharma SK, Cullen R, Spellman S, Reed EF et al. Chain-terminating natural mutations affect the function of activating KIR receptors 3DS1 and 2DS3. Immunogenetics 2007; 59: 779–792.
  Article CAS PubMed Google Scholar
• Gómez-Lozano N, Gardiner CM, Parham P, Vilches C . Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and KIR2DL5B. Immunogenetics 2002; 54: 314–319.
  Article PubMed Google Scholar
• Hsu KC, Chida S, Geraghty DE, Dupont B . The killer cell immunoglobulin-like receptor (KIR) genomic region: gene-order, haplotypes and allelic polymorphism. Immunol Rev 2002; 190: 40–52.
  Article CAS PubMed Google Scholar
• Carrington M, Norman P . The KIR Gene Cluster. National Library of Medicine, National Center for Biotechnology Information: Bethesda, MD, 2003.
  Google Scholar
• Gómez-Lozano N, Trompeter HI, de Pablo R, Estefanía E, Uhrberg M, Vilches C . Epigenetic silencing of potentially functional KIR2DL5 alleles: implications for the acquisition of KIR repertoires by NK cells. Eur J Immunol 2007; 37: 1954–1965.
  Article PubMed Google Scholar
• Vilches C, Castaño J, Gómez-Lozano N, Estefanía E . Facilitation of KIR genotyping by a PCR-SSP method that amplifies short DNA fragments. Tissue Antigens 2007; 70: 415–422.
  Article CAS PubMed Google Scholar
• Middleton D, Curran M, Maxwell L . Natural killer cells and their receptors. Transpl Immunol 2002; 10: 147–164.
  Article CAS PubMed Google Scholar
• Keaney L, Williams F, Meenagh A, Sleator C, Middleton D . Investigation of killer cell immunoglobulin-like receptor gene diversity III. KIR2DL3. Tissue Antigens 2004; 64: 188–194.
  Article CAS PubMed Google Scholar
• Halfpenny IA, Middleton D, Barnett YA, Williams F . Investigation of killer cell immunoglobulin-like receptor gene diversity: IV. KIR3DL1/S1. Hum Immunol 2004; 65: 602–612.
  Article CAS PubMed Google Scholar
• Maxwell LD, Williams F, Gilmore P, Meenagh A, Middleton D . Investigation of killer cell immunoglobulin-like receptor gene diversity: II. KIR2DS4. Hum Immunol 2004; 65: 613–621.
  Article CAS PubMed Google Scholar
• Williams F, Meenagh A, Sleator C, Middleton D . Investigation of killer cell immunoglobulin-like receptor gene diversity: I. KIR2DL4. Hum Immunol 2004; 65: 31–38.
  Article CAS PubMed Google Scholar
• Gómez-Lozano N, Vilches C . Genotyping of human killer-cell immunoglobulin-like receptor genes by polymerase chain reaction with sequence-specific primers: an update. Tissue Antigens 2002; 59: 184–193.
  Article PubMed Google Scholar
• Gómez-Lozano N, Estefanía E, Williams F, Halfpenny I, Middleton D, Solís R et al. The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated. Eur J Immunol 2005; 35: 16–24.
  Article PubMed Google Scholar
• Garcia CA, Robinson J, Guethlein LA, Parham P, Madrigal JA, Marsh SG . Human KIR sequences 2003. Immunogenetics 2003; 55: 227–239.
  Article CAS PubMed Google Scholar
• Vilches C, Gardiner CM, Parham P . Gene structure and promoter variation of expressed and non-expressed variants of the KIR2DL5 gene. J Immunol 2000; 165: 6416–6421.
  Article CAS PubMed Google Scholar