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Titolo:
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
Autore:
Aradhya, S; Woffendin, H; Jakins, T; Bardaro, T; Esposito, T; Smahi, A; Shaw, C; Levy, M; Munnich, A; DUrso, M; Lewis, RA; Kenwrick, S; Nelson, DL;
Indirizzi:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 Dept Dermatol, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 pt Ophthalmol, Houston, TX 77030 USA Baylor Coll Med, Cullen Eye Inst, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 llen Eye Inst, Houston, TX 77030 USA Wellcome Trust Ctr Mol Mechanisms Dis, Cambridge CB2 2XY, England WellcomeTrust Ctr Mol Mechanisms Dis Cambridge England CB2 2XY England Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2XY, England Univ Cambridge Cambridge England CB2 2XY Med, Cambridge CB2 2XY, England CNR, Int Inst Genet & Biophys, Area Ric, I-80125 Naples, Italy CNR Naples Italy I-80125 enet & Biophys, Area Ric, I-80125 Naples, Italy BioGem, Naples, Italy BioGem Naples ItalyBioGem, Naples, Italy Hop Necker Enfants Malad, INSERM 393, Unite Rech Handicaps Genet Enfant, Dept Genet, F-75015 Paris, France Hop Necker Enfants Malad Paris France F-75015 net, F-75015 Paris, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 19, volume: 10, anno: 2001,
pagine: 2171 - 2179
SICI:
0964-6906(20010915)10:19<2171:ARDITU>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
NF-KAPPA-B; HYPOHIDROTIC ECTODERMAL DYSPLASIA; BLOCH-SULZBERGER SYNDROME; SEVERE HEMOPHILIA-A; X-LINKED DISORDER; FACTOR-VIII GENE; KINASE COMPLEX; MISSENSE MUTATIONS; GENOMIC DISORDERS; DEFICIENT MICE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
52
Recensione:
Indirizzi per estratti:
Indirizzo: Nelson, DL Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 et, Houston, TX 77030 USA
Citazione:
S. Aradhya et al., "A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations", HUM MOL GEN, 10(19), 2001, pp. 2171-2179

Abstract

Incontinentia pigmenti (IP) is an X-linked dominant disorder characterizedby abnormal skin pigmentation, retinal detachment, anodontia, alopecia, nail dystrophy and central nervous system defects. This disorder segregates as a male lethal disorder and causes skewed X-inactivation in female patients. IP is caused by mutations in a gene called NEMO, which encodes a regulatory component of the I kappaB kinase complex required to activate the NF-kappaB pathway. Here we report the identification of 277 mutations in 357 unrelated IP patients. An identical genomic deletion within NEMO accounted for90% of the identified mutations. The remaining mutations were small duplications, substitutions and deletions. Nearly all NEMO mutations caused frameshift and premature protein truncation, which are predicted to eliminate NEMO function and cause cell lethality. Examination of families transmitting the recurrent deletion revealed that the rearrangement occurred in the paternal germline in most cases, indicating that it arises predominantly by intrachromosomal misalignment during meiosis. Expression analysis of human andmouse NEMO/Nemo showed that the gene becomes active early during embryogenesis and is expressed ubiquitously. These data confirm the involvement of MEMO in IP and will help elucidate the mechanism underlying the manifestation of this disorder and the in vivo function of NEMO. Based on these and other recent findings, we propose a model to explain the pathogenesis of this complex disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 07:54:07