F. Coin et al., MUTATIONS IN THE XPD HELICASE GENE RESULT IN XP AND TTD PHENOTYPES, PREVENTING INTERACTION BETWEEN XPD AND THE P44 SUBUNIT OF TFIIH, Nature genetics, 20(2), 1998, pp. 184-188
In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodyst
rophy (TTD) patients carry mutations in the carboxy-terminal domain of
the evolutionarily conserved helicase XPD, which is one of the subuni
ts of the transcription/repair factor TFIIH (ref 1, 2). In this study,
we demonstrate that XPD interacts specifically with p44, another subu
nit of TFIIH, and that this interaction results in the stimulation of
5' --> 3' helicase activity. Mutations in the XPD C-terminal domain, a
s found in most patients, prevent the interaction with p44, thus expla
ining the decrease in XPD helicase activity and the nucleotide excisio
n repair (NER) defect.