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Titolo:
STRUCTURAL ORGANIZATION AND EXPRESSION OF THE GENE FOR THE MOUSE G(M2) ACTIVATOR PROTEIN
Autore:
BERTONI C; APPOLLONI MG; STIRLING JL; LI SC; LI YT; ORLACCHIO A; BECCARI T;
Indirizzi:
UNIV PERUGIA,DIPARTIMENTO BIOL CELLULARE & MOL,SEZ BIOCHIM & BIOL MOL,VIA GIOCHETTO I-06126 PERUGIA ITALY UNIV PERUGIA,DIPARTIMENTO BIOL CELLULARE & MOL,SEZ BIOCHIM & BIOL MOLI-06126 PERUGIA ITALY UNIV LONDON KINGS COLL,DIV LIFE SCI LONDON W8 7AH ENGLAND TULANE UNIV,MED CTR,DEPT BIOCHEM NEW ORLEANS LA 70112
Titolo Testata:
Mammalian genome
fascicolo: 2, volume: 8, anno: 1997,
pagine: 90 - 93
SICI:
0938-8990(1997)8:2<90:SOAEOT>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
TAY-SACHS-DISEASE; HEXA; IDENTIFICATION; CHROMOSOME-5; DISRUPTION; MAPS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
C. Bertoni et al., "STRUCTURAL ORGANIZATION AND EXPRESSION OF THE GENE FOR THE MOUSE G(M2) ACTIVATOR PROTEIN", Mammalian genome, 8(2), 1997, pp. 90-93

Abstract

The G(M2) activator protein is an essential component for the degradation of G(M2) ganglioside by hexosaminidase A in vivo. Mutations in the human gene coding for the G(M2) activator protein cause the AB variant of G(M2)-gangliosidosis, a condition that is clinically indistinguishable from Tay-Sachs disease. To understand better factors affecting the expression of the G(M2) activator protein gene (Gm2a) in mouse tissues, we have determined its exon-intron organization and analyzed itspromoter region. Gm2a is about 14 kb, has four exons, and the 5' flanking region contains a CAAT box, Sp1 binding sites, AP-1, AP-2 sites, and a pair of IRE sites. A 1.2-kb fragment upstream from the initiation codon was shown to have promoter activity in NIH 3T3 cells. Similarities between the elements present in Gm2a and Hexa promoters might in part explain their similar expression patterns in mouse tissues. The different levels of G(M2) activator protein mRNA in liver, kidney, brain, and testis are not owing to the use of different transcription start sites, because a single start site was found 50 bp upstream from theinitiation codon in each these tissues. Northern blot analysis demonstrated variation in the G(M2) activator protein mRNA expression duringmouse development. Gm2a was mapped to Chromosome (Chr) 11, where it co-segregated with Csfgm.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/10/20 alle ore 11:33:56