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Titolo:
COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH
Autore:
MAHESHWAR MM; SANDFORD R; NELLIST M; CHEADLE JP; SGOTTO B; VAUDIN M; SAMPSON JR;
Indirizzi:
UNIV WALES COLL CARDIFF,INST MED GENET CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL CARDIFF,INST MED GENET CARDIFF CF4 4XN S GLAM WALES ADDENBROOKES HOSP,DEPT MED CAMBRIDGE CB2 2QQ ENGLAND WASHINGTON UNIV,SCH MED,DEPT GENET ST LOUIS MO 63108 WASHINGTON UNIV,SCH MED,GENOME SEQUENCING CTR ST LOUIS MO 63108
Titolo Testata:
Human molecular genetics
fascicolo: 1, volume: 5, anno: 1996,
pagine: 131 - 137
SICI:
0964-6906(1996)5:1<131:CAGSOT>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN; PREDICTION; SITES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
M.M. Maheshwar et al., "COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH", Human molecular genetics, 5(1), 1996, pp. 131-137

Abstract

Germ-line mutations of the TSC2 tumour suppressor gene have been identified in humans with tuberous sclerosis and in the Eker rat. Tuberin,the human TSC2 gene product, has a small region of homology with rap1GAP and stimulates rap1 GTPase activity in vitro, suggesting that one of its cellular roles is to function as a GTPase activating protein (GAP). We have undertaken a comparative analysis of the TSC2 gene in human and the pufferfish, Fugu rubripes. In addition to the GAP domain,three other regions of the proteins are highly conserved (peptide sequence similarity >80%). These regions are likely to represent further functional domains. To facilitate analysis of mutations within these domains we have determined the genomic structure of the human TSC2 gene. It comprises 41 exons, including exon 31 which was absent from the originally described spliceoform of the human TSC2 transcript and was identified following exon prediction from Fugu genomic sequence. These findings support the proposal of the Fugu genome as a tool for human geneanalysis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:12:09