XPD解旋酶基因突变会导致着色性干皮病和毛发硫营养不良症表型，阻止XPD与TFIIH的p44亚基之间的相互作用。

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

作者信息

Coin F, Marinoni J C, Rodolfo C, Fribourg S, Pedrini A M, Egly J M

机构信息

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P.163, Illkirch, C.U. de Strasbourg, France.

出版信息

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

DOI:10.1038/2491

PMID:9771713

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.

摘要

在大多数情况下，着色性干皮病D组（XP-D）和毛发硫营养不良（TTD）患者在进化保守解旋酶XPD的羧基末端结构域携带突变，XPD是转录/修复因子TFIIH的亚基之一（参考文献1,2）。在本研究中，我们证明XPD与TFIIH的另一个亚基p44特异性相互作用，并且这种相互作用导致5'→3'解旋酶活性的刺激。如大多数患者中所发现的，XPD C末端结构域的突变阻止了与p44的相互作用，从而解释了XPD解旋酶活性的降低和核苷酸切除修复（NER）缺陷。