Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
RETARDED AND ABERRANT SPLICINGS CAUSED BY SINGLE EXON MUTATION IN A PHOSPHOGLYCERATE KINASE VARIANT
Autore:
OOKAWARA T; DAVE V; WILLEMS P; MARTIN JJ; DEBARSY T; MATTHYS E; YOSHIDA A;
Indirizzi:
CITY HOPE NATL MED CTR,BECKMAN RES INST,DEPT BIOCHEM GENET DUARTE CA 91010 CITY HOPE NATL MED CTR,BECKMAN RES INST,DEPT BIOCHEM GENET DUARTE CA 91010 UNIV ANTWERP,DEPT MED GENET B-2020 ANTWERP BELGIUM UNIV ANTWERP,DEPT NEUROL B-2020 ANTWERP BELGIUM UNIV ANTWERP,BORN BUNGE FDN,NEUROPATHOL LAB B-2020 ANTWERP BELGIUM UNIV CATHOLIQUE LOUVAIN,INT INST CELLULAR & MOLEC PATHOL B-1200 BRUSSELS BELGIUM ST JAN HOSP,DEPT NEPHROL BRUGGE BELGIUM
Titolo Testata:
Archives of biochemistry and biophysics
fascicolo: 1, volume: 327, anno: 1996,
pagine: 35 - 40
SICI:
0003-9861(1996)327:1<35:RAASCB>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
SEQUENCE; GENE;
Keywords:
PHOSPHOGLYCERATE KINASE VARIANT; ENZYME DEFICIENCY; MESSENGER-RNA SPLICING; EXON MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
T. Ookawara et al., "RETARDED AND ABERRANT SPLICINGS CAUSED BY SINGLE EXON MUTATION IN A PHOSPHOGLYCERATE KINASE VARIANT", Archives of biochemistry and biophysics, 327(1), 1996, pp. 35-40

Abstract

The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tissue enzyme deficiency and episodes of muscle contractions and myoglobinuria was examined. Analysis of the patient's DNA showed the existence of a nucleotide transversion AIT --> C/G in exon 7. No other nucleotide change was detected, in the coding region of the variant gene. The mutation should produce a single amino acid substitution Glu --> Ala at protein position 251 counting from theNH2-terminal acetyl serine residue. The protein abnormality caused bythe amino acid substitution cannot explain the enzyme deficiency. Northern blot hybridization indicated that the PGK mRNA content of the patient's lymphoblastoid cells was only about 10% of that of normal. Nucleotide sequence analysis revealed the existence of two PGK mRNA components in the patient's cells. The major component corresponds to the normal PGK mRNA except for A --> C change at nucleotide position 755 counting from adenine of the chain initiation codon. The minor componentcontains 5' region (52 bases) of intron 7 between exon 7 and exon 8, An inframe chain termination codon exists in the minor mRNA component,and the COOH-terminal half is expected to be deleted in the translation product. These results indicate that the low PGK activity in the patient's tissues is mainly due to retarded and aberrant pre-mRNA splicings caused by the change of the consensus 5' splice sequence AGgt to anonconsensus sequence CGgt at the junction between exon 7 and intron 7 of the variant gene. (C) 1996 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 19:18:12