Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XP-D patients (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XP-D patients (Articolo in rivista) (literal)

Anno

• 2003-01-01T00:00:00+01:00 (literal)

Alternative label

• Dubaele S., Proietti de Santis L., Bienstock R.J., Keriel A., Stefanini M., van Houtten B. and Egly J.M. (2003)
  Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XP-D patients
  in Molecular cell
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Dubaele S., Proietti de Santis L., Bienstock R.J., Keriel A., Stefanini M., van Houtten B. and Egly J.M. (literal)

Pagina inizio

• 1 (literal)

Pagina fine

• 20 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 11 (literal)

Rivista

• Molecular cell (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

• Impact Factor: 16.835 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 67404 Illkirch Cedex, C.U., Strasbourg, France, Laboratory of Molecular Genetics and Scientific Computing Laboratory, National Institute of Environmental Health, National Institutes of Health, Science Research Triangle Park, NC 27709, USA; Istituto di Genetica Molecolare, CNR, via Abbiategrasso, 207, 27100, Pavia, Italy (literal)

Titolo

• Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XP-D patients (literal)

Abstract

• Mutations in the XPD gene result in xeroderma pigmentosum (XP) and trichothiodystrophy (TTD), the phenotypes of which are often intricate. To understand the genotype/phenotype relationship, we engineered recombinant TFIIHs in which XPD subunits carry amino acid changes found in XPD patients. We demonstrate that all the XPD mutations are detrimental for XPD helicase activity, thus explaining the NER defect. We also show that TFIIH from TTD patients, but not from XP patients, exhibits a significant in vitro basal tran- scription defect in addition to a reduced intracellular concentration. Moreover, when XPD mutations pre- vent interaction with the p44 subunit of TFIIH, transactivation directed by certain nuclear receptors is in- hibited, regardless of TTD versus XP phenotype, thus explaining the overlapping symptoms. The implications of these mutations are discussed using a structural model of the XPD protein. Our study provides explana- tions for the nature and the severity of the various clinical features. (literal)

Prodotto di

• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• MIRIA STEFANINI (Unità di personale interno)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• MIRIA STEFANINI (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Molecular cell (Rivista)