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Titolo:
Molecular basis for the p phenotype - Identification of distinct and multiple mutations in the (alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals
Autore:
Furukawa, K; Iwamura, K; Uchikawa, M; Sojka, BN; Wiels, J; Okajima, T; Urano, T; Furukawa, K;
Indirizzi:
Nagoya Univ, Sch Med, Dept Biochem 2, Showa Ku, Nagoya, Aichi 4660065, Japan Nagoya Univ Nagoya Aichi Japan 4660065 a Ku, Nagoya, Aichi 4660065, Japan Japanese Red Cross, Cent Blood Ctr, Shibuya Ku, Tokyo 1500012, Japan Japanese Red Cross Tokyo Japan 1500012 Shibuya Ku, Tokyo 1500012, Japan Umea Univ Hosp, Dept Transfus Med, S-90185 Umea, Sweden Umea Univ Hosp Umea Sweden S-90185 pt Transfus Med, S-90185 Umea, Sweden Inst Gustave Roussy, CNRS, UMR 1598, F-94805 Villejuif, France Inst Gustave Roussy Villejuif France F-94805 , F-94805 Villejuif, France
Titolo Testata:
JOURNAL OF BIOLOGICAL CHEMISTRY
fascicolo: 48, volume: 275, anno: 2000,
pagine: 37752 - 37756
SICI:
0021-9258(200012)275:48<37752:MBFTPP>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
BLOOD-GROUP; EXPRESSION; ANTIBODIES; INFECTION; ANTIGENS; SYSTEM; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Furukawa, K Nagoya Univ, Sch Med, Dept Biochem 2, Showa Ku, 65 Tsurumai, Nagoya, Aichi4660065, Japan Nagoya Univ 65 Tsurumai Nagoya Aichi Japan 4660065 0065, Japan
Citazione:
K. Furukawa et al., "Molecular basis for the p phenotype - Identification of distinct and multiple mutations in the (alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals", J BIOL CHEM, 275(48), 2000, pp. 37752-37756

Abstract

p phenotype individuals lack both P-k (Gb3) and P (Gb4) glycolipid antigens of the P blood group system. To explore the molecular basis for this phenotype, DNA sequences of Gb3 synthase (alpha1,4-galactosyltransferase; alpha1,4Gal-T) in six p phenotype individuals from Japan and Sweden were analyzed. A missense mutation P251L and a nonsense mutation W261stop in three and one Japanese indivuiduals, respectively, and missense mutations M183K and G187D in one each of two Swedish p individuals were found, indicating that pindividuals from Japan and Sweden have distinct and multiple homozygous point mutations in the coding region. In the function analysis of the mutatedalpha1,4Gal-Ts by the transfection of the expression vectors, P251L and M183K mutations showed complete loss of enzyme function, and W261stop and G187D mutations resulted in the marginal activity. BLAST analysis of homologous sequences of alpha1,4Gal-T revealed that three residues, Met(183), Gly(187), and Pro(251), at which missense mutations were found, were highly conserved among all species examined, suggesting their importance for the function of alpha1,4Gal-T.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 16:03:48