Rh(mod) syndrome: A family study of the translation-initiator mutation in the Rh50 glycoprotein gene

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 108-117

  Huang, Cheng Han ^a   Cheng, G J ^a   Reid, M E ^a   Chen, Y ^a  

^a NEW YORK BLOOD CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; RHESUS ANTIGEN; COMPLEMENTARY DNA; MEMBRANE PROTEIN; PLASMA PROTEIN; RHAG PROTEIN, HUMAN; RHCE PROTEIN, HUMAN;

ARTICLE; BLOOD DISEASE; BLOOD GROUP RH; CONTROLLED STUDY; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENETIC TRANSCRIPTION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SYNDROME; TRANSLATION INITIATION; BLOOD GROUP RHESUS SYSTEM; CHEMISTRY; CONSANGUINITY; DNA SEQUENCE; GENETICS; JEW; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

BASE SEQUENCE; BLOOD PROTEINS; BLOTTING, SOUTHERN; CONSANGUINITY; DNA, COMPLEMENTARY; GLYCOPROTEINS; HUMANS; JEWS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RH-HR BLOOD-GROUP SYSTEM; SEQUENCE ANALYSIS, DNA;

EID: 0033237843     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302215     Document Type: Article

References (43)

1. Agre P, Cartron J-P (1991a) Biochemistry and molecular genetics of Rh antigens. Baillieres Clin Haematol 4:793-819
2. Agre P, Cartron J-P (1991b) Molecular biology of the Rh antigens. Blood 78:551-563
3. Anstee DJ, Tanner MJ (1993) Biochemical aspects of the blood group Rh (rhesus) antigens. Baillieres Clin Haematol 6: 401-422
4. Apoil PA, Reid ME, Halverson G, Mouro I, Colin Y, Roubinet F, Cartron J-P, et al (1997) A human monoclonal anti-D antibody which detects a nonconformation-dependent epitope on the RhD protein by immunoblot. Br J Haematol 98:365-374
5. Arce MA, Thompson ES, Wagner S, Coyne KE, Ferdman BA, Lublin DM (1993) Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals. Blood 82:651-655
6. Avent ND, Ridgwell K, Tanner MJA, Anstee DJ (1990) cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood group-antigen expression. Biochem J 271:821-825
7. Basseres D, Vicentim DL, Costa FF, Saad STO, Hassoun H (1998) β-Spectrin Promissao: a translation initiation codon mutation of the β-spectrin gene (ATG-GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family. Blood 91:368-369
8. Baysal E, Carver MFH (1995): The β- and δ-thalassemia repository. Hemoglobin 19:213-236
9. Carritt B, Kemp TJ, Poulter M (1997) Evolution of the human RH (rhesus) blood group genes: a 50 year old prediction (partially) fulfilled. Hum Mol Genet 6:843-850
10. Cartron J-P, Agre P (1995) Rh blood groups and Rh deficiency syndrome. In: Cartron J-P, Rouger P (eds) Blood cell biochemistry. Vol 6: Molecular basis of major human blood group antigens. Plenum, New York, pp 189-225
11. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, et al (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834
12. Cherif-Zahar B, Bloy B, Le Van Kim C, Blanchard D, Bailly P, Hermand P, Salmon C, et al (1990) Molecular cloning and protein structure of a human blood group Rh polypeptide. Proc Natl Acad Sci USA 87:6243-6247
13. Cherif-Zahar B, Matassi G, Raynal V, Gane P, Mempel W, Perez C, Cartron J-P (1998) Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood 92:664-671
14. Cherif-Zahar B, Raynal V, Gane P, Mattei M-G, Bailly P, Gibbs B, Colin Y, et al (1996) Candidate gene acting as a suppressor of the RH locus in most cases of Rh deficiency. Nat Genet 12:168-173
15. Chown B, Lewis M, Kaita H, Lowen B (1972) An unlinked modifier of Rh blood groups: effects when heterozygous and when homozygous. Am J Hum Genet 24:623-637
16. Dalla Venezia N, Gilsanz F, Alloisio N, Ducluzeau MT, Benz EJ Jr, Delaunay J (1992) Homozygous 4.1 (-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest 90:1713-1717
17. Deen PMT, Croes H, van Aubel RAMH, Ginsel LA, van Os CH (1995) Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest 95:2291-2296
18. Eyers SAC, Ridgwell K, Mawby WJ, Tanner MJA (1994) Topology and organization of the human Rh (Rhesus) blood group-related polypeptides. J Biol Chem 269:6417-6423
19. Frohman MA, Dush MK, Martin GR (1988) Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc Natl Acad Sci USA 85:8998-9002
20. Goossens M, Kan YY (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805-817
21. Hermand P, Le Pennec PY, Rouger P, Catron J-P, Bailly P (1996) Characterization of the gene encoding the human LW blood group protein in LW+ and LW- phenotypes. Blood 87: 2962-2967
22. W-red blood cells: phenotypic heterozygosity versus genotypic heterozygosity. Blood 88: 2326-2333
23. Huang CH (1997) Molecular insights into the Rh protein family and associated antigens. Curr Opin Hematol 4:94-103
24. null disease. J Biol Chem 273:2207-2213
25. null disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood 92:664-671
26. 279→Glu missense mutation in the conserved transmembrane segment. Blood 92:1776-1784
27. Huang CH, Reid ME, Chen Y, Couglan G, Okubo Y (1996) Molecular definition of red cell Rh haplotypes by tightly linked Sph I RFLPs. Am J Hum Genet 58:133-142
28. null blood donor of the regulator type. Blood 91: 1458-1463
29. Iida Y, Masuda T (1996) Strength of translation initiation signal sequence of mRNA as studied by quantification method: effect of nucleotide substitutions upon translation efficiency in rat preproinsulin mRNA. Nucleic Acids Res 24: 3313-3316
30. Iwamoto S, Omi T, Yamasaki M, Okuda H, Kawano M, Kajii E (1998) Identification of 5′ flanking sequence of RH50 gene and the core region for erythroid-specific expression. Biochem Biophys Res Commun 243:233-240
31. null phenotype. Ann Hum Genet 62: 107-113
32. Kozak M (1987) An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 15: 8125-8148
33. Le van Kim C, Mouro I, Cherif-Zahar B, Raynal V, Cherrier C, Cartron JP, Colin Y (1992) Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc Natl Acad Sci USA 89:10925-10929
34. Lindberg FP, Bullard DC, Caver TE, Gresham HD, Beaudet AL, Brown EJ (1996) Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice. Science 274:795-798
35. Mallinson G, Anstee DJ, Avent ND, Ridgwell K, Tanner MJA, Daniels GL, Tippett P, et al (1990) Murine monoclonal antibody MB 2D10 recognizes Rh-related glycoproteins in the human red cell membrane. Transfusion 30:222-225
36. mod, a second kindred (Craig). Vox Sang 30:430-440
37. Nash R, Shojania AM (1987) Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. Am J Hematol 24:267-275
38. Race RR, Sanger R (1975) Blood groups in man. Blackwell, Oxford
39. Ridgwell K, Spurr NK, Laguda B, MacGeoch C, Avent ND, Tanner MJA (1992) Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (Rhesus) blood group antigen expression. Biochem J 287:223-228
40. Singer SJ (1990) The structure and insertion of integral proteins in membranes. Annu Rev Cell Biol 6:247-296
41. Tippett P (1990) Regulator genes affecting red cell antigens. Transfus Med Rev 4:56-68
42. Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 76:4350-4354
43. Vos GH, Vos D, Kirk RL, Sanger R (1961) A sample of blood with no detectable Rh antigens. Lancet 1:14-15