A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista)

Type
Label
  • A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1093/hmg/10.19.2171 (literal)
Alternative label
  • Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL. (2001)
    A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
    in Human molecular genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL. (literal)
Pagina inizio
  • 2171 (literal)
Pagina fine
  • 2179 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 10 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 ] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Organization-Enhanced Name(s) Baylor College of Medicine [ 2 ] Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA Organization-Enhanced Name(s) Baylor College of Medicine [ 3 ] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Organization-Enhanced Name(s) Baylor College of Medicine [ 4 ] Baylor Coll Med, Cullen Eye Inst, Houston, TX 77030 USA Organization-Enhanced Name(s) Baylor College of Medicine [ 5 ] Wellcome Trust Ctr Mol Mechanisms Dis, Cambridge CB2 2XY, England Organization-Enhanced Name(s) University of Cambridge [ 6 ] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2XY, England Organization-Enhanced Name(s) University of Cambridge [ 7 ] CNR, Int Inst Genet & Biophys, Area Ric, I-80125 Naples, Italy Organization-Enhanced Name(s) Consiglio Nazionale delle Ricerche (CNR) [ 8 ] BioGem, Naples, Italy [ 9 ] Hop Necker Enfants Malad, INSERM 393, Unite Rech Handicaps Genet Enfant, Dept Genet, F-75015 Paris, France (literal)
Titolo
  • A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (literal)
Abstract
  • Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by 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 IkappaB 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 for 90% 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 and mouse NEMO/Nemo showed that the gene becomes active early during embryogenesis and is expressed ubiquitously. These data confirm the involvement of NEMO 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. (literal)
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