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Titolo:
Triplet repeats, RNA secondary structure and toxic gain-of-function modelsfor pathogenesis
Autore:
Galvao, R; Mendes-Soares, L; Camara, J; Jaco, I; Carmo-Fonseca, M;
Indirizzi:
Univ Lisbon, Fac Med, Inst Histol & Embryol, P-1649028 Lisbon, Portugal Univ Lisbon Lisbon Portugal P-1649028 mbryol, P-1649028 Lisbon, Portugal
Titolo Testata:
BRAIN RESEARCH BULLETIN
fascicolo: 3-4, volume: 56, anno: 2001,
pagine: 191 - 201
SICI:
0361-9230(200110/11)56:3-4<191:TRRSSA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
OCULOPHARYNGEAL MUSCULAR-DYSTROPHY; CAG TRINUCLEOTIDE REPEAT; SCA1 TRANSGENIC MICE; AMINO-ACID-SEQUENCE; EXPANDED CUG REPEAT; DMPK MESSENGER-RNA; MYOTONIC-DYSTROPHY; STRUCTURE PREDICTION; BINDING PROTEIN; INTRANUCLEAR INCLUSIONS;
Keywords:
trinucleotide repeat diseases; polyglutamine diseases; RNA-binding proteins; RNA gain-of-function;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
119
Recensione:
Indirizzi per estratti:
Indirizzo: Carmo-Fonseca, M Univ Lisbon, Fac Med, Inst Histol & Embryol, Av Prof EgasMoniz, P-1649028Lisbon, Portugal Univ Lisbon Av Prof Egas Moniz Lisbon Portugal P-1649028
Citazione:
R. Galvao et al., "Triplet repeats, RNA secondary structure and toxic gain-of-function modelsfor pathogenesis", BRAIN RES B, 56(3-4), 2001, pp. 191-201

Abstract

Ten years after the discovery of human diseases caused by trinucleotide repeat expansions, searching for mechanistic links between gene mutation and pathological phenotype remains a fundamental and unsolved issue. Evidence accumulated so far indicates that the pathogenesis of repeat disorders is complex and multi-factorial. Diseases caused by CAG expansions coding for polyglutamine tracts have been extensively studied, and in most cases a toxic gain-of-function of the mutant protein was demonstrated. Most recently, tracking the effects of repeats along the pathway of gene expression is providing additional clues to understand how a triplet repeat expansion can causedisease. Expanded repeats form DNA secondary structures that confer genetic instability, and most likely contribute to alter the local chromatin configuration leading to transcriptional silencing. At the level of RNA, the expanded repeat may either interfere with processing of the primary transcript, resulting in deficit of the corresponding protein, or interact with RNA-binding proteins altering their normal activity. The latter mechanism, termed RNA gain-of-function, has no precedents in human genetics. Recent evidence suggests that expanded RNAs and associated RNA-binding proteins are potential contributors to the pathogenesis of several triplet repeat diseases. (C) 2001 Elsevier Science Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 07:00:32