Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain

Immunogenetics

Volumn 51, Issue 8-9, 2000, Pages 639-646

  Vilches, Carlos ^a,b   Pando, Marcelo J ^a   Parham, Peter ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

Author keywords

Genomic structure; Human; Killer cell immunoglobulin like receptors; NK cells; Splicing

Indexed keywords

IMMUNOGLOBULIN RECEPTOR; MESSENGER RNA PRECURSOR;

ARTICLE; CONTROLLED STUDY; ENHANCER REGION; EXON; GENE INACTIVATION; GENE SEQUENCE; GENE STRUCTURE; HUMAN; HUMAN CELL; NATURAL KILLER CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA SPLICING; RNA TRANSLATION;

ADULT; BASE SEQUENCE; DNA, COMPLEMENTARY; EXONS; HUMANS; KILLER CELLS, NATURAL; MOLECULAR SEQUENCE DATA; PROTEIN BIOSYNTHESIS; PROTEIN STRUCTURE, TERTIARY; PSEUDOGENES; RECEPTORS, IMMUNOLOGIC; SEQUENCE HOMOLOGY, NUCLEIC ACID; TUMOR CELLS, CULTURED;

EID: 0033934805     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510000184     Document Type: Article

References (35)

1. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411-2414
2. Cantoni C, Verdiani S, Falco M, Pessino A, Cilli M, Conte R, Pende D, Ponte M, Mikaelsson MS, Moretta L, Biassoni R (1998) p49, a putative HLA class I-specific inhibitory NK receptor belonging to the immunoglobulin superfamily. Eur J Immunol 28:1980-1990
3. Chou MY, Rooke N, Turck CW, Black DL (1999) HnRNP is a component of a splicing enhancer complex that activates a c-src alternative exon in neuronal cells. Mol Cell Biol 19:69-77
4. Colonna M (1997) Specificity and function of immunoglobulin superfamily NK cell inhibitory and stimulatory receptors. Immunol Rev 155:127-133
5. Colonna M, Samaridis J (1995) Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. Science 268:405-408
6. Cooper TA, Mattox W (1997) The regulation of splice-site selection, and its role in human disease. Am J Hum Genet 61:259-266
7. Dietz HC, Kendzior RJ, Jr (1994) Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet 8:183-188
8. Dietz HC, Valle D, Francomano C, Kendzior RJ, Jr, Pyeritz RE, Cutting GR (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683
9. Dohring C, Samaridis J, Colonna M (1996a) Alternatively spliced forms of human killer inhibitory receptors. Immunogenetics 44:227-230
10. Dohring C, Scheidegger D, Samaridis J, Cella M, Colonna M (1996b) A human killer inhibitory receptor specific for HLA-A1,2. J Immunol 156:3098-3101
11. Felsenstein J (1985) Confidence limits on phylogenies:An approach using the bootstrap. Evolution 4:783-791
12. Liu W, Qian C, Francke U (1997) Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 16:328-329
13. Long EO, Burshtyn DN, Clark WP, Peruzzi M, Rajagopalan S, Rojo S, Wagtmann N, Winter CC (1997) Killer cell inhibitory receptors:diversity, specificity, and function. Immunol Rev 155:135-144
14. Long EO, Colonna M, Lanier LL (1999) Killer cell Ig-like receptor proteins. http://www.ncbi.nlm.nih.gov/prow/
15. Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96:6307-6311
16. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8:1177-1183
17. Moretta A, Biassoni R, Bottino C, Pende D, Vitale M, Poggi A, Mingari MC, Moretta L (1997) Major histocompatibility complex class I-specific receptors on human natural killer and T lymphocytes. Immunol Rev 155:105-117
18. Nelson KK, Green MR (1989) Mammalian U2 snRNP has a sequence-specific RNA-binding activity. Genes Dev 3:1562-1571
19. Rajagopalan S, Long EO (1999) A human histocompatibility leukocyte antigen (HLA)-G-specific receptor expressed on all natural killer cells. J Exp Med 189:1093-1100
20. Rojo S, Wagtmann N, Long EO (1997) Binding of a soluble p70 killer cell inhibitory receptor to HLA-B*5101:requirement for all three p70 immunoglobulin domains. Eur J Immunol 27:568-571
21. Saitou N, Nei M (1987) The neighbour-joining method:a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406-425
22. Schaal TD, Maniatis T (1999) Selection and characterization of pre-mRNA splicing enhancers:identification of novel SR protein-specific enhancer sequences. Mol Cell Biol 19:1705-1719
23. Selvakumar A, Steffens U, Dupont B (1996) NK cell receptor gene of the KIR family with two Ig domains but highest homology to KIR receptors with three Ig domains. Tissue Antigens 48:285-294
24. Selvakumar A, Steffens U, Palanisamy N, Chaganti RS, Dupont B (1997) Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103. Tissue Antigens 49:564-573
25. Senapathy P, Shapiro MB, Harris NL (1990) Splice junctions, branch point sites, and exons:sequence statistics, identification, and applications to genome project. Methods Enzymol 183:252-278
26. Shilling HG, Lienert-Weidenbach K, Valiante NM, Uhrberg M, Parham P (1998) Evidence for recombination as a mechanism for KIR diversification. Immunogenetics 48:413-416
27. Snary D, Barnstable CJ, Bodmer WF, Crumpton MJ (1977) Molecular structure of human histocompatibility antigens:the HLA-C scries. Eur J Immunol 7:580-585
28. Suto Y, Ishikawa Y, Kasahara M, Kasai F, Yabe T, Akaza T, Juji T (1998) Gene arrangement of the killer cell inhibitory receptor family on human chromosome 19q13.4 detected by fiber-FISH. Immunogenetics 48:235-241
29. Tacke R, Manley JL (1995) The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities. EMBO J 14:3540-3551
30. Tacke R, Manley JL (1999) Determinants of SR protein specificity. Curr Opin Cell Biol 11:358-362
31. Valiante NM, Lienert K, Shilling HG, Smits BJ, Parham P (1997a) Killer cell receptors:keeping pace with MHC class I evolution. Immunol Rev 155:155-164
32. Valiante NM, Uhrberg M, Shilling HG, Lienert-Weidenbach K, Arnett KL, D'Andrea A, Phillips JH, Lanier LL, Parham P (1997b) Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors. Immunity 7:739-751
33. Vilches C, Rajalingam R, Uhrberg M, Gardiner C, Young NT, Parham P (2000) KIR2DL5, a novel killer-cell receptor with a D0 D2 configuration of immunoglobulin like domains. J Immunol (in press)
34. Wagtmann N, Biassoni R, Cantoni C, Verdiani S, Malnati MS, Vitale M, Bottino C, Moretta L, Moretta A, Long EO (1995) Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra-and intracellular domains. Immunity 2:439-449
35. Wilson MJ, Torkar M, Trowsdale J (1997) Genomic organization of a human killer cell inhibitory receptor gene. Tissue Antigens 49: 574-579