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Titolo:
Reduced FMRP and increased FMR1 transcription is proportionally associatedwith CGG repeat number in intermediate-length and premutation carriers
Autore:
Kenneson, A; Zhang, FP; Hagedorn, CH; Warren, ST;
Indirizzi:
Emory Univ, Sch Med, Howard Hughes Med Inst, Rollins Res Ctr, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 t, Rollins Res Ctr, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 Med, Dept Biochem, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Genet, Atlanta, GA 30322 USA Emory Univ AtlantaGA USA 30322 ch Med, Dept Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 h Med, Dept Pediat, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Med, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 Sch Med, Dept Med, Atlanta, GA 30322 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 14, volume: 10, anno: 2001,
pagine: 1449 - 1454
SICI:
0964-6906(20010701)10:14<1449:RFAIFT>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; PREMATURE OVARIAN FAILURE; SELECTIVE RNA-BINDING; PSYCHIATRIC-DISORDERS; DIRECT DIAGNOSIS; FEMALE CARRIERS; FULL MUTATION; PHENOTYPE; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Warren, ST Emory Univ, Sch Med, Howard Hughes Med Inst, Rollins Res Ctr, 1510 CliftonRd,Room 4035, Atlanta, GA 30322 USA Emory Univ 1510 Clifton Rd,Room 4035 Atlanta GA USA 30322 2 USA
Citazione:
A. Kenneson et al., "Reduced FMRP and increased FMR1 transcription is proportionally associatedwith CGG repeat number in intermediate-length and premutation carriers", HUM MOL GEN, 10(14), 2001, pp. 1449-1454

Abstract

The 5 ' untranslated CGG repeat in the fragile X mental retardation-1 (FMR1) gene is expanded in families with fragile X syndrome, with more than 200CGGs resulting in mental retardation due to the absence of the encoded fragile X mental retardation protein (FMRP). Intermediate and premutation alleles, containing between approximately 40 and 200 repeats, express grossly normal FMRP levels and such carriers are widely believed to be non-penetrant, despite continued reports of subtle cognitive/psychosocial impairment andother phenotypes. Using a highly sensitive quantification assay, we demonstrate significantly diminished FMRP levels in carriers, negatively correlated with repeat number. Despite reduced FMRP, these carrier alleles overexpress FMR1, resulting in a positive correlation between repeat number and FMR1 message level. These biochemical deviations associated with intermediate and premutation FMR1 alleles, found in similar to4% of the population, suggest that the phenotypic spectrum of fragile X syndrome may need to be revisited.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 00:26:35