메뉴 건너뛰기




Volumn 90, Issue 2, 1997, Pages 839-849

Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD GROUP ABH ANTIGEN; FUCOSYLTRANSFERASE;

EID: 0030818810     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.2.839     Document Type: Article
Times cited : (77)

References (30)
  • 2
    • 0025010879 scopus 로고
    • Sugar-nucleotide donor specificity of histo-blood group A and B transferase is based on amino acid substitutions
    • Yamamoto F, Hakomori S-I: Sugar-nucleotide donor specificity of histo-blood group A and B transferase is based on amino acid substitutions. J Biol Chem 265:19257, 1990
    • (1990) J Biol Chem , vol.265 , pp. 19257
    • Yamamoto, F.1    Hakomori, S.-I.2
  • 3
    • 0027180212 scopus 로고
    • Molecular genetic basis of the human Rhesus blood group system
    • Mouro I, Colin Y, Cartron BJP, Kim CLV: Molecular genetic basis of the human Rhesus blood group system. Nat Genet 5:62, 1993
    • (1993) Nat Genet , vol.5 , pp. 62
    • Mouro, I.1    Colin, Y.2    Cartron, B.J.P.3    Kim, C.L.V.4
  • 6
    • 0027500756 scopus 로고
    • Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals
    • Koda Y, Kimura H, Mekada E: Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals. Blood 82:2915, 1993
    • (1993) Blood , vol.82 , pp. 2915
    • Koda, Y.1    Kimura, H.2    Mekada, E.3
  • 8
    • 0029443307 scopus 로고
    • Molecular genetics of H, Se, Lewis and other fucosyltransferase genes
    • Mollicone R, Cailleau A, Oriol, R: Molecular genetics of H, Se, Lewis and other fucosyltransferase genes. Transfus Clin Biol 2:235, 1995
    • (1995) Transfus Clin Biol , vol.2 , pp. 235
    • Mollicone, R.1    Cailleau, A.2    Oriol, R.3
  • 9
    • 0030049607 scopus 로고    scopus 로고
    • DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables molecular genotyping of the human Lewis blood group system
    • Elmgren A, Børjeson C, Svensson L, Rydberg L, Larson G: DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables molecular genotyping of the human Lewis blood group system. Vox Sang 70:97, 1996
    • (1996) Vox Sang , vol.70 , pp. 97
    • Elmgren, A.1    Børjeson, C.2    Svensson, L.3    Rydberg, L.4    Larson, G.5
  • 10
    • 0028965558 scopus 로고
    • Sequence and expression of a candidate for the human secretor blood group α(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the nonsecretor phenotype
    • Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB: Sequence and expression of a candidate for the human secretor blood group α(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the nonsecretor phenotype. J Biol Chem 270:4640, 1995
    • (1995) J Biol Chem , vol.270 , pp. 4640
    • Kelly, R.J.1    Rouquier, S.2    Giorgi, D.3    Lennon, G.G.4    Lowe, J.B.5
  • 11
    • 0029869013 scopus 로고    scopus 로고
    • Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals
    • Kudo T, Iwasaki H, Nishihara S, Shinya N, Ando T, Narimatsu I, Narimatsu H: Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals. J Biol Chem 271:9830, 1996
    • (1996) J Biol Chem , vol.271 , pp. 9830
    • Kudo, T.1    Iwasaki, H.2    Nishihara, S.3    Shinya, N.4    Ando, T.5    Narimatsu, I.6    Narimatsu, H.7
  • 12
    • 0030047288 scopus 로고    scopus 로고
    • Genetic evidence for the Lewis enzyme, which synthesizes type-1 Lewis antigens in colon tissue, and intracellular localization of the enzyme
    • Narimatsu H, Iwasaki H, Nishihara S, Kimura H, Kudo T, Yamauchi Y, Hirohashi S: Genetic evidence for the Lewis enzyme, which synthesizes type-1 Lewis antigens in colon tissue, and intracellular localization of the enzyme. Cancer Res 56:330, 1996
    • (1996) Cancer Res , vol.56 , pp. 330
    • Narimatsu, H.1    Iwasaki, H.2    Nishihara, S.3    Kimura, H.4    Kudo, T.5    Yamauchi, Y.6    Hirohashi, S.7
  • 13
    • 0024375016 scopus 로고
    • A cloned human DNA restriction fragment determines expression of a GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase in transfected cells. Evidence for isolation and transfer of the human H blood group locus
    • Rajan VP, Larsen RD, Ajmera S, Ernst L, Lowe JB: A cloned human DNA restriction fragment determines expression of a GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase in transfected cells. Evidence for isolation and transfer of the human H blood group locus. J Biol Chem 264:11158, 1989
    • (1989) J Biol Chem , vol.264 , pp. 11158
    • Rajan, V.P.1    Larsen, R.D.2    Ajmera, S.3    Ernst, L.4    Lowe, J.B.5
  • 14
    • 0025155469 scopus 로고
    • Molecular cloning, sequence, and expression of a human GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase cDNa that can form the H blood group antigen
    • Larsen RD, Ernst LK, Nair RP, Lowe JB: Molecular cloning, sequence, and expression of a human GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase cDNA that can form the H blood group antigen. Proc Natl Acad Sci USA 87:6674, 1990
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6674
    • Larsen, R.D.1    Ernst, L.K.2    Nair, R.P.3    Lowe, J.B.4
  • 15
    • 0009735367 scopus 로고
    • Chapter 1: ABO, Lewis, and P blood group systems
    • Watkins WM: Chapter 1: ABO, Lewis, and P blood group systems. Adv Hum Genet 10:1, 1978
    • (1978) Adv Hum Genet , vol.10 , pp. 1
    • Watkins, W.M.1
  • 16
    • 0011825343 scopus 로고
    • Biochemical evidence that secretor gene, Se, is a structural gene encoding a specific fucosyltransferase
    • Kumazaki T, Yoshida A: Biochemical evidence that secretor gene, Se, is a structural gene encoding a specific fucosyltransferase. Proc Natl Acad Sci USA 81:4193, 1984
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 4193
    • Kumazaki, T.1    Yoshida, A.2
  • 17
    • 0025071156 scopus 로고
    • Purification of H gene-encoded β-galactoside α 1-2fucosyltransferase from human serum
    • Sarnesto A, Køhlin T, Thurin J, Blaszczyk-Thurin M: Purification of H gene-encoded β-galactoside α 1-2fucosyltransferase from human serum. J Biol Chem 265:15067, 1990
    • (1990) J Biol Chem , vol.265 , pp. 15067
    • Sarnesto, A.1    Køhlin, T.2    Thurin, J.3    Blaszczyk-Thurin, M.4
  • 18
    • 0026801471 scopus 로고
    • Purification of the secretor-type β-glactoside α1-2-fucosyltransferase form human serum
    • Sarnesto A, Køhlin T, Hindsgaul O, Thurin J, Thurin MB: Purification of the secretor-type β-glactoside α1-2-fucosyltransferase form human serum. J Biol Chem 267:2737, 1992
    • (1992) J Biol Chem , vol.267 , pp. 2737
    • Sarnesto, A.1    Køhlin, T.2    Hindsgaul, O.3    Thurin, J.4    Thurin, M.B.5
  • 19
    • 0028947451 scopus 로고
    • Molecular cloning and expression of two types of rabbit β-galactoside α 1,2fucosyltransferase
    • Hitoshi S, Kusunoki S, Kanazawa I, Tsuji S: Molecular cloning and expression of two types of rabbit β-galactoside α 1,2fucosyltransferase. J Biol Chem 270:8844, 1995
    • (1995) J Biol Chem , vol.270 , pp. 8844
    • Hitoshi, S.1    Kusunoki, S.2    Kanazawa, I.3    Tsuji, S.4
  • 20
    • 0030014656 scopus 로고    scopus 로고
    • Molecular cloning and expression of a third type of rabbit GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase
    • Hitoshi S, Kusunoki S, Kanazawa I, Tsuji S: Molecular cloning and expression of a third type of rabbit GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase. J Biol Chem 271:16975, 1996
    • (1996) J Biol Chem , vol.271 , pp. 16975
    • Hitoshi, S.1    Kusunoki, S.2    Kanazawa, I.3    Tsuji, S.4
  • 24
    • 0020536357 scopus 로고
    • H-deficient blood groups of Reunion Island. III. α-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals
    • Le Pendu J, Clamagirand-Mulet C, Cartron J-P. Gerard G, Vitrac D, Oriol R: H-deficient blood groups of Reunion Island. III. α-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals. Am J Hum Genet 35:497, 1983
    • (1983) Am J Hum Genet , vol.35 , pp. 497
    • Le Pendu, J.1    Clamagirand-Mulet, C.2    Cartron, J.-P.3    Gerard, G.4    Vitrac, D.5    Oriol, R.6
  • 26
    • 0028935724 scopus 로고
    • Molecular cloning of a human genomic region containing the H blood group α(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human secretor blood group locus
    • Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D: Molecular cloning of a human genomic region containing the H blood group α(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human secretor blood group locus. J Biol Chem 270:4632, 1995
    • (1995) J Biol Chem , vol.270 , pp. 4632
    • Rouquier, S.1    Lowe, J.B.2    Kelly, R.J.3    Fertitta, A.L.4    Lennon, G.G.5    Giorgi, D.6
  • 27
    • 0029095778 scopus 로고
    • Relative positions of two clusters of human alpha-L-fucosyltransferase in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19
    • Reguigne-Arnould I, Couillin P, Mollicone R, Faure S, Fletcher A, Kelly RJ, Lowe JB, Oriol R: Relative positions of two clusters of human alpha-L-fucosyltransferase in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19. Cytogenet Cell Genet 71:158, 1995
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 158
    • Reguigne-Arnould, I.1    Couillin, P.2    Mollicone, R.3    Faure, S.4    Fletcher, A.5    Kelly, R.J.6    Lowe, J.B.7    Oriol, R.8
  • 28
    • 0028967121 scopus 로고
    • Structure-function analysis of human α1-3fucosyltransferases
    • Holmes EH, Xu Z, Sherwood AL, Macher BA: Structure-function analysis of human α1-3fucosyltransferases. J Biol Chem 270:8145, 1995
    • (1995) J Biol Chem , vol.270 , pp. 8145
    • Holmes, E.H.1    Xu, Z.2    Sherwood, A.L.3    Macher, B.A.4
  • 29
    • 0027169073 scopus 로고
    • Human α-1,3fucosyltransferase (Fuc-TVI) gene is located at only 13 kb 3′ to the Lewis type fucosyltransferase (Fuc-TIII) gene on chromosome 19
    • Nishihara S, Nakazato M, Kudo T, Kimura H, Ando T, Narimatsu H: Human α-1,3fucosyltransferase (Fuc-TVI) gene is located at only 13 kb 3′ to the Lewis type fucosyltransferase (Fuc-TIII) gene on chromosome 19. Biochem Biophys Res Commun 190:42, 1993
    • (1993) Biochem Biophys Res Commun , vol.190 , pp. 42
    • Nishihara, S.1    Nakazato, M.2    Kudo, T.3    Kimura, H.4    Ando, T.5    Narimatsu, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.