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Titolo:
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Autore:
Kerr, TP; Sewry, CA; Robb, SA; Roberts, RG;
Indirizzi:
Univ London Kings Coll, Div Med & Mol Genet, Guys Kings & St Thomas Sch Med, Guys Hosp, London SE1 9RT, England Univ London Kings Coll London England SE1 9RT p, London SE1 9RT, England Guys Hosp, Dept Paediat Neurol, London SE1 9RT, England Guys Hosp LondonEngland SE1 9RT Paediat Neurol, London SE1 9RT, England Univ London Imperial Coll Sci Technol & Med, Sch Med, Dubowitz Neuromusc Ctr, Dept Paediat & Neonatal Med, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med London England W12 0NN gland Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England Robert Jones & Agnes Hunt Orthopaed Hosp Oswestry Shrops England SY10 7AG
Titolo Testata:
HUMAN GENETICS
fascicolo: 4, volume: 109, anno: 2001,
pagine: 402 - 407
SICI:
0340-6717(200110)109:4<402:LMDAVP>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
DUCHENNE MUSCULAR-DYSTROPHY; MESSENGER-RNA SURVEILLANCE; POINT MUTATIONS; DMD PATIENTS; GENE; MDX; TRANSCRIPTION; MECHANISMS; DELETIONS; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Roberts, RG Univ London Kings Coll, Div Med & Mol Genet, Guys Kings & St Thomas Sch Med, Guys Hosp, 8th Floor,Guys Tower, London SE1 9RT, England Univ London Kings Coll 8th Floor,Guys Tower London England SE1 9RT
Citazione:
T.P. Kerr et al., "Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?", HUM GENET, 109(4), 2001, pp. 402-407

Abstract

More than 98% of Duchenne muscular dystrophy (DMD) mutations result in thepremature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%-98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the message by nonsense-mediated decay (NMD). The rare truncating mutations that occur near the 3' end of the dystrophin gene (beyond exon 70) can however result in extremely variable phenotypes (both intra- and inter-familially). We suggest that all proteins encoded by such mutant genes are capable in principle of rescuing the DMD phenotype but that NMD abrogates the opportunity to effect this rescue. The observed variability may therefore reflect an underlying variation in the efficiency of NMD between individuals. We discuss this hypothesis with particularreference to a well-characterised Becker muscular dystrophy patient with aframeshift mutation. where expression of a truncated dystrophin rescues the muscular but not mental phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 13:05:19