Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-10

AUTHORS

Frédéric Coin, Jean-Christophe Marinoni, Carlo Rodolfo, Sébastien Fribourg, Antonia Maria Pedrini, Jean-Marc Egly

ABSTRACT

In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (Refs 1,2). In this study, we demonstrate that XPD interacts specifically with p44, another subunit of TFIIH, and that this interaction results in the stimulation of 5´→3´ helicase activity. Mutations in the XPD C-terminal domain, as found in most patients, prevent the interaction with p44, thus explaining the decrease in XPD helicase activity and the nucleotide excision repair (NER) defect. More... »

PAGES

184-188

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/2491

DOI

http://dx.doi.org/10.1038/2491

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036247542

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9771713


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