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. 1998 Oct;20(2):184-8.
doi: 10.1038/2491.

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

F Coin  1 , J C Marinoni, C Rodolfo, S Fribourg, A M Pedrini, J M Egly
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Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

F Coin et al. Nat Genet. 1998 Oct.

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.

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Comment in

  • From a DNA helicase to brittle hair.
    Winkler GS, Hoeijmakers JH. Winkler GS, et al. Nat Genet. 1998 Oct;20(2):106-7. doi: 10.1038/2396. Nat Genet. 1998. PMID: 9771695 No abstract available.

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