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Titolo:
DIFFERENTIAL EXPRESSION OF NORMAL AND MUTANT HUNTINGTONS-DISEASE GENEALLELES
Autore:
PERSICHETTI F; CARLEE L; FABER PW; MCNEIL SM; AMBROSE CM; SRINIDHI J; ANDERSON M; BARNES GT; GUSELLA JF; MACDONALD ME;
Indirizzi:
MASSACHUSETTS GEN HOSP,MOL NEUROGENET UNIT CHARLESTOWN MA 02129 HARVARD UNIV,SCH MED,DEPT GENET BOSTON MA 02114
Titolo Testata:
Neurobiology of disease
fascicolo: 3, volume: 3, anno: 1996,
pagine: 183 - 190
SICI:
0969-9961(1996)3:3<183:DEONAM>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
IT15 PROTEIN PRODUCT; CAG REPEAT; EMBRYONIC LETHALITY; BRAIN; LOCALIZATION; EXPANSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
F. Persichetti et al., "DIFFERENTIAL EXPRESSION OF NORMAL AND MUTANT HUNTINGTONS-DISEASE GENEALLELES", Neurobiology of disease, 3(3), 1996, pp. 183-190

Abstract

Huntingtin expression was examined by Western blot and immunoprecipitation studies of lymphoblastoid cell lines from Huntington's disease (HD) homozygotes, heterozygotes, and a phenotypically normal individualwith a t(4p16.3;12p13.3) breakpoint in the HD gene. The latter produced a reduced level of normal huntingtin without evidence of an alteredprotein, indicating that simple loss of huntingtin activity does not cause HD. In juvenile onset HD heterozygotes, NH2- and COOH-terminal antisera revealed reduced relative expression from the mutant allele. Pulse-chase studies indicated that huntingtin is a stable protein whosedifferential allelic expression is not due to destabilization of the mutant isoform. No stable breakdown products specific to mutant huntingtin were detected in either HD homozygotes or heterozygotes. These data are consistent with HD involving either a gain of function or a dominant negative loss of function that operates within severe constraints and suggest that in either case the pathogenic process is usually saturated by the amount of abnormal huntingtin produced from a single mutant allele. (C) 1996 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/08/20 alle ore 17:00:27