Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene

Blood

Volumn 92, Issue 7, 1998, Pages 2535-2540

  Chérif Zahar, Baya ^b   Matassi, Giorgio ^b   Raynal, Virginie ^b   Gane, Pierre ^b   Delaunay, Jean ^b   Arrizabalaga, Beatrix ^b   Cartron, Jean Pierre ^a  

^a INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

RHESUS ANTIGEN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BLOOD GROUP RHESUS SYSTEM; CONTROLLED STUDY; CYTOMETRY; DNA SEQUENCE; ERYTHROCYTE MEMBRANE; EXON; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INTRON; MOLECULAR DYNAMICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION;

EID: 0032189836     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.7.2535     Document Type: Article

References (34)

1. Cartron JP, Agre P: Rh blood group antigens. Protein and gene structure. Semin Hematol 30:193, 1993
2. Anstee DJ, Tanner MJA: Biochemical aspects of the blood group Rh (rhesus) antigens, in Anstee DJ, Tanner MJA (eds): Baillère's Clinical Haematology, Red Cell Membrane and Red Cell Antigens, vol 6. London, UK, Baillìre Tindall 1993, p 401
3. Cartron, JP: Defining the Rh blood group antigens. Blood Rev 8:199, 1994
4. Race RR, Sanger R: The Rh blood groups, in Blood Groups in Man (ed 6). Oxford, UK, Blackwell, 1975, p 78
5. Ridgwell K, Spur, NK, Laguda B, Macgeoch C, Avent ND, Tanner MJA: Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (Rhesus) blood group antigen expression. Biochem J 287:223, 1992
6. Chérif-Zahar B, Le Van Kim C, Rouillac C, Raynal V, Cartron JP, Colin Y: Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. Genomics 19:68, 1994
7. Matassi G, Chérif-Zahar B, Raynal V, Rouger P, Cartron JP: Organization of the RH50A gene and evolution of base composition of the RH gene family. Genomics 47:286, 1998
8. Campbell IG, Freemont PS, Foulkes W, Trowsdale J: An ovarian tumor marker with homology to vaccinia virus contains an IgV-like region and multiple transmembrane domains. Cancer Res 52:5416, 1992
9. Schwartz MA, Brown EJ, Fazeli B: A 50 kDa integrin-associated protein is required for integrin-regulated calcium entry in endothelilal cells. J Biol Chem 268:19931, 1993
10. Mawby WJ, Holmes CH, Anstee DJ, Spring F, Tanner MJA: Isolation and characterization of CD47 glycoprotein: A multispanning membrane protein which is the same as inte grin-associated protein (IAP) and the ovarian tumor marker OA3. Biochem J 304:525, 1994
11. Lindberg FP, Lublin DM, Telen MJ, Veile RA, Miller YE, Donis-Keller H, Brown EJ: Rh-related antigen CD47 is the signal transducer integrin-associated protein. J Biol Chem 269:1567, 1994
12. Tippett P: Regulator genes affecting red cell antigens. Transfus Med Rev 4:56, 1990
13. Chérif-Zahar B, Matassi G, Raynal V, Gane P, Mempel W, Perez C, Cartron JP: Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood 92:639, 1998
14. Chérif-Zahar B, Raynal V, Gane P, Mattei M.G, Bailly P, Gibbs B, Colin Y, Cartron JP: Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. Nat Genet 12:168, 1996
15. Hyland CA, Cherif-Zahar B, Cowley N, Raynal V, Parkes J, Saul A, Cartron, JP: A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. Blood91:1458, 1998
16. Eyers SAC, Ridgwell K, Mawby WJ, Tanner MJA: Topology and organization of human Rh (Rhesus) blood group related polypeptides. J Biol Chem 269:6417, 1994
17. Avent ND, Liu W, Warner KM, Mawby WJ, Jones JW, Ridgwell K, Tanner MJA: Immunochemical analysis of the human erythrocyte Rh polypeptides. J Biol Chem 271:14233, 1996
18. b blood group polymorphism. Hum Genet 95:407, 1995
19. Gossens M, Yuet Kan Y: DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805, 1981
20. Chérif-Zahar B, Bloy C, Le Van Kim C, Blanchard D, Bailly P, Hermand P, Salmon C, Cartron JP, Colin Y: Molecular cloning and protein structure of a human blood group Rh polypeptide. Proc Natl Acad Sci USA 87:6243, 1990
21. Le Van Kim C, Mouro I, Chérif-Zahar B, Raynal V, Cherrier C, Cartron JP, Colin Y: Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc Natl Acad Sci USA 89:10925, 1992
22. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
23. Ho M, Chelly J, Carter N, Danek A, Cracker P, Monaco AP: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77:869, 1994
24. Suyama K, Lunn R, Haller S, Goldstein J: Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells. Blood 84:1975, 1994
25. w-gene complexes. Blood 84:4354, 1994
26. Kajii E, Uminishi F, Omi T, Ikemoto S: Intricate combinatorial patterns of exon splicing generate multiple Rh-related isoforms in human erythroid cells. Hum Genet 95:657, 1995
27. Le Van Kim C, Cherif-Zahar B, Raynal V, Mouro I, Lopez M, Cartron JP, Colin Y: Multiple Rh messenger RNA isoforms are produced by alternative splicing. Blood 80:1074, 1992
28. Nelson KK, Green MR: Mechanism for cryptic splice site activation during pre-mRNA splicing. Proc Natl Acad Sci USA 87:6253,1990
29. +1 to A mutation in three different introns of type III procollagen gene (COL 3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome IV. J Biol Chem 265:12067, 1990
30. Berget SM: Exon recognition in vertebrate splicing. J Biol Chem 270:2411, 1995
31. Gotoda T, Yamada N, Murase T, Inaba T, Ishibashi S, Shimano H, Koga S, Yazaki Y, Furuichi Y, Takaku F: Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. J Biol Chem 266:24757, 1991
32. Mclntosh I, Hamosh A, Dietz CH: Nonsense mutations and diminished mRNA levels. Nat Genet 4:219, 1993
33. Maquat LE: Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279, 1996
34. null. Nature 204:892, 1964