Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type

Blood

Volumn 92, Issue 2, 1998, Pages 639-646

  Chérif Zahar, Baya ^a   Matassi, Giorgio ^b   Raynal, Virginie ^c   Gane, Pierre ^a   Mempel, Wolfgang ^a   Perez, Carmen ^b   Cartron, Jean Pierre ^a,b,c  

^a INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^b UNIVERSITY OF MUNICH   (Germany)

^c HOSPITAL SAN AGUSTÍN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

RHESUS ANTIGEN;

ARTICLE; BLOOD GROUP RH; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION;

EID: 2642672673     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.2.639     Document Type: Article

References (39)

1. Colin Y, Cherif-Zahar B, Le Van Kim C, Raynal V, Van Huffel V, Cartron JP: Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 78:2747, 1991
2. Ridgwell K, Spurr NK, Laguda B, MacGeoch C, Avent ND, Tanner MJ: 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
3. Matassi G, Chérif-Zahar B, Raynal V, Rouger P, Cartron JP: Organization of the human RH50A gene and evolution of base composition of the RH gene family. Genomics 47:286, 1998
4. Huang C-H: The human Rh50 glycoprotein gene. J Biol Chem 273:2207, 1998
5. Cartron JP: Defining the Rh blood group antigens. Biochemistry and molecular genetics. Blood Rev 8:199, 1994
6. Cartron JP, Agre P: Rh blood group antigens: Protein and gene structure. Seminars Hematol 30:193, 1993
7. Anstee DJ, Tanner MJA: Biochemical aspects of the blood group Rh (Rhesus) antigens. Clin Haematol 6:401, 1990
8. Race RR, Sanger R: The Rh Blood Groups: Blood Groups in Man (ed 6). Oxford, UK, Blackwell, 1975, p 178
9. Tippett P: Regulator genes affecting red cell antigens. Transfus Med Rev 4:56, 1990
10. Agre P, Cartron JP: Molecular biology of Rh antigens. Blood 78:551, 1991
11. Schmidt PJ, Vos GH: Multiple phenotypic abnormalities associated with Rh-null (-/-).Vox Sang 13:18, 1967
12. Sturgeon P: Hematological observations on the anemia associated with blood type Rh-null. Blood 36:310, 1970
13. Lauf PK, Joiner CH: Increased potassium transport and ouabain binding in human Rh-null red blood cells. Blood 48:457, 1976
14. Ballas S, Clark MR, Mohandas N, Colfer HF, Caswell MS, Bergen MO, Perkins HA, Shohet SB: Red cell membranes and cation deficiency in Rh-null syndrome. Blood 63:1046, 1984
15. Kuypers F, van Linde-Sibenius-Trip M, Roelofsen B, Tanner MJA, Anstee DJ, Op den Kamp JAF: Rh-null human erythrocytes have an abnormal membrane phospholipid organization. Biochem J 221:931, 1984
16. Chérif-Zahar B, Raynal V, Gane P, Mattel MG, 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
17. null blood donor of the regulator type. Blood 91:1458, 1998
18. Chérif-Zahar B, Raynal V, Le Van Kim C, D'Ambrosio AM, Bailly P, Cartron JP, Colin Y: Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood 82:656, 1993
19. Carritt B, Blunt T, Avent N, Daniels G, Steers F: Rh null phenotypes are not due to a gross deletion and can occur on different Rh genetic backgrounds. Ann Hum Genet 57:273, 1993
20. Nash R, Shojania AM: Hematological aspect of Rh deficiency syndrome: A case report and a review of the literature. Am J Hematol 24:267, 1987
21. Perez-Perez C, Taliano V, Mouro I, Huet M, Salat-Marti A, Martinez A, Rouger P, Cartron JP: Spanish Rhnull family caused by a silent Rh gene: Hematological, serological, and biochemical studies. Am J Hematol 40:306, 1992
22. Seidl S, Spielmann W, Martin H: Two siblings with Rh null disease. Vox Sang 23:182, 1972
23. Tournamille C, Le Van Kirn C, Gane P, Cartron JP, Colin Y: Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism. Hum Genet 95:407, 1995
24. Hermand P, Mouro I, Huet M, Bloy C, Suyama K, Goldstein J, Cartron JP, Bailly P: Immunochemical characterization of rhesus proteins with antibodies raised against synthetic peptides. Blood 82:669,1993
25. Ruff P, Speicher DW, Husain-Chishti A: Molecular identification of a major palmitoylated erythrocyte membrane protein containing the scr homology 3 motif. Proc Natl Acad Sei USA 88:6595,1991
26. Goossens M, Kan YY: DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805,1981
27. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
28. Chérif-Zahar B, Bloy C, Le Van Kirn 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 Sei USA 87:6243,1990
29. Maillet P, Delaunay J, Baklouti F: Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies. Hum Mutat 7:61,1996
30. Alloisio N, Dalla Venezia N, Rana A, Andrabi K, Texier P, Gilsans F, Cartron JP, Delaunay J, Chishti AH: Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Blood 82:1323,1993
31. Le Van Kim C, Chérif-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
32. Kajii E, Umenishi 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
33. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155,1987
34. Campbell IG, Freemont PS, Foulkes W, Trowsdale J: An ovarian tumor marker with homology to vaccinia virus containing an IgV-like region and multiple transmembrane domains. Cancer Res 52:5416, 1992
35. Kyte J, Doolittle RF: A simple method for displaying the hydropathic character of a protein. J Mol Biol 157:105,1982
36. Eyers SA, Ridgwell K, Mawby WJ, Tanner MJ: Topology and organization of human Rh (rhesus) blood group-related polypeptides. J Biol Chem 269:6417,1994
37. Avent ND, Liu W, Warner KM, Mawby WJ, Jones JW, Ridgwell K, Tanner MJ: Immunochemical analysis of the human erythrocyte Rh polypeptides. J Biol Chem 271:14233,1996
38. 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
39. Anstee DJ, Holmes CH, Judson PA, Tanner MJA: The use of monoclonal antibodies to determine the distribution of red cell surface proteins on cells and tissues, in Agre PC, Cartron JP (eds): Protein Blood Group Antigens of the Human Red Cell. Baltimore, MD, Johns Hopkins, 1992, p 170