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Titolo:
NXF5, a novel member of the nuclear RNA export factor family, is lost in amale patient with a syndromic form of mental retardation
Autore:
Jun, L; Frints, S; Duhamel, H; Herold, A; Abad-Rodrigues, J; Dotti, C; Izaurralde, E; Marynen, P; Froyen, G;
Indirizzi:
Katholieke Univ Leuven, Flanders Interuniv Inst Biotechnol, Human Genome Lab, B-3000 Louvain, Belgium Katholieke Univ Leuven Louvain Belgium B-3000b, B-3000 Louvain, Belgium European Mol Biol Lab, D-69117 Heidelberg, Germany European Mol Biol Lab Heidelberg Germany D-69117 117 Heidelberg, Germany Univ Turin, Cavalieri Ottolenghi Sci Inst, I-10043 Orbassano, TO, Italy Univ Turin Orbassano TO Italy I-10043 Inst, I-10043 Orbassano, TO, Italy
Titolo Testata:
CURRENT BIOLOGY
fascicolo: 18, volume: 11, anno: 2001,
pagine: 1381 - 1391
SICI:
0960-9822(20010918)11:18<1381:NANMOT>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED RETINITIS-PIGMENTOSA; MESSENGER-RNA; FMR1 PROTEIN; HIPPOCAMPAL-NEURONS; BINDING; TRANSPORT; TAP; DOMAIN; CTE; INTERACTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Froyen, G Katholieke Univ Leuven, Flanders Interuniv Inst Biotechnol, Human Genome Lab, B-3000 Louvain, Belgium Katholieke Univ Leuven Louvain Belgium B-3000 Louvain, Belgium
Citazione:
L. Jun et al., "NXF5, a novel member of the nuclear RNA export factor family, is lost in amale patient with a syndromic form of mental retardation", CURR BIOL, 11(18), 2001, pp. 1381-1391

Abstract

Background: Although X-linked mental retardation (XLMR) affects 2%-3% of the human population, little is known about the underlying molecular mechanisms. Recent interest in this topic led to the identification of several genes for which mutations result in the disturbance of cognitive development. Results: We identified a novel gene that is interrupted by an inv(X)(p21.1;q22) in a male patient with a syndromic form of mental retardation. Molecular analysis of both breakpoint regions did not reveal an interrupted gene on Xp, but identified a novel nuclear RNA export factor (NXF) gene cluster,Xcen-NXF5-NXF2-NXF4-NXF3-Xqter, in which NXF5 is split by the breakpoint, leading to its functional nullisomy. The predicted NXF5 protein shows high similarity with the central part of the presumed mRNA nuclear export factorTAP/NXF1. Functional analysis of NXF5 demonstrates binding to RNA as well as to the RNA nuclear export-associated protein p15/NXT. In contrast to TAP/NXF1, overexpression studies localized NXF6 in the form of granules in thecell body and neurites of mature hippocampal neurons, suggesting a role inmRNA transport. The two newly identified mouse nxf homologs, nxf-a and nxf-b, which also map on X, show highest mRNA levels in the brain. Conclusions: A novel member of the nuclear RNA export factor family is absent in a male patient with a syndromic form of mental retardation. Althoughwe did not find direct evidence for the involvement of NXF5 in MR, the gene could be involved in development, possibly through a process in mRNA metabolism in neurons.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 08:58:43