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Titolo:
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
Autore:
Miller, JW; Urbinati, CR; Teng-umnuay, P; Stenberg, MG; Byrne, BJ; Thornton, CA; Swanson, MS;
Indirizzi:
Univ Florida, Coll Med, Dept Mol Genet & Microbiol, Ctr Gene Therapy & Mammalian Genet, Gainesville, FL 32610 USA Univ Florida Gainesville FL USA 32610 an Genet, Gainesville, FL 32610 USA Univ Rochester, Sch Med & Dent, Dept Neurol, Rochester, NY 14642 USA Univ Rochester Rochester NY USA 14642 ept Neurol, Rochester, NY 14642 USA
Titolo Testata:
EMBO JOURNAL
fascicolo: 17, volume: 19, anno: 2000,
pagine: 4439 - 4448
SICI:
0261-4189(20000901)19:17<4439:ROHMPT>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
RNA-BINDING PROTEIN; TRINUCLEOTIDE REPEAT EXPANSION; REDUCES EXPRESSION; GENE; MYOPATHY; LOCUS; DMPK; DIFFERENTIATION; ORGANIZATION; TRANSCRIPTS;
Keywords:
DM1; EXP proteins; muscleblind; myotonic dystrophy; RNA dominance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Swanson, MS Univ Florida, Coll Med, Dept Mol Genet & Microbiol, Ctr Gene Therapy & Mammalian Genet, Gainesville, FL 32610 USA Univ Florida Gainesville FL USA 32610 inesville, FL 32610 USA
Citazione:
J.W. Miller et al., "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy", EMBO J, 19(17), 2000, pp. 4439-4448

Abstract

Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG), expansion in the 3'-untranslated region of the DM1 protein kinase (DMPK) gene. To explain disease pathogenesis, the RNA dominance model proposes that the DM1 mutation produces a gain-of-function at theRNA level in which CUG repeats form RNA hairpins that sequester nuclear factors required for proper muscle development and maintenance. Here, we identify the triplet repeat expansion (EXP) RNA-binding proteins as candidate sequestered factors. As predicted by the RNA dominance model, binding of theEXP proteins is specific for dsCUG RNAs and proportional to the size of the triplet repeat expansion. Remarkably, the EXP proteins are homologous to the Drosophila muscleblind proteins required for terminal differentiation of muscle and photoreceptor cells. EXP expression is also activated during mammalian myoblast differentiation, but the EXP proteins accumulate in nuclear foci in DMI cells. We propose that DM1 disease is caused by aberrant recruitment of the EXP proteins to the DMPK transcript (CUG)(n) expansion.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 09:34:45