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Titolo:
IDENTIFICATION AND CHARACTERIZATION OF THE MOUSE OBESITY GENE TUBBY -A MEMBER OF A NOVEL GENE FAMILY
Autore:
KLEYN PW; FAN W; KOVATS SG; LEE JJ; PULIDO JC; WU Y; BERKEMEIER LR; MISUMI DJ; HOLMGREN L; CHARLAT O; WOOLF EA; TAYBER O; BRODY T; SHU P; HAWKINS F; KENNEDY B; BALDINI L; EBELING C; ALPERIN GD; DEEDS J; LAKEY ND; CULPEPPER J; CHEN H; GLUCKSMANNKUIS MA; CARLSON GA; DUYK GM; MOORE KJ;
Indirizzi:
MILLENNIUM PHARMACEUT INC,640 MEMORIAL DR CAMBRIDGE MA 02139 MCLAUGHLIN RES INST BIOMED SCI GREAT FALLS MT 59405
Titolo Testata:
Cell
fascicolo: 2, volume: 85, anno: 1996,
pagine: 281 - 290
SICI:
0092-8674(1996)85:2<281:IACOTM>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROPEPTIDE-Y; FOOD-INTAKE; WEIGHT; MICE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
P.W. Kleyn et al., "IDENTIFICATION AND CHARACTERIZATION OF THE MOUSE OBESITY GENE TUBBY -A MEMBER OF A NOVEL GENE FAMILY", Cell, 85(2), 1996, pp. 281-290

Abstract

The mutated gene responsible for the tubby obesity phenotype has beenidentified by positional cloning. A single base change within a splice donor site results in the incorrect retention of a single intron in the mature tub mRNA transcript. The consequence of this mutation is the substitution of the carboxy-terminal 44 amino acids with 24 intron-encoded amino acids. The normal transcript appears to be abundantly expressed in the hypothalamus, a region of the brain involved in body weight regulation. Variation in the relative abundance of alternative splice products is observed between inbred mouse strains and appears to correlate with an intron length polymorphism. This allele of tub is a candidate for a previously reported diet-induced obesity quantitative trait locus on mouse chromosome 7.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 15:45:27