Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
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DOI：
10.1038/2491
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发表时间：
1998-10-01
期刊：
影响因子：
30.8
通讯作者：
Egly, JM
中科院分区：
文献类型：
--
作者：
Coin, F;Marinoni, JC;Egly, JM
在大多数情况下，着色性干皮病D组(XP-D)和毛发硫代营养不良(TTD)患者携带进化保守的解旋酶XPD的羧基末端区域的突变，XPD是转录/修复因子TFIIH的一个亚单位(参考文献1，2)。在这项研究中，我们证明了XPD与TFIIH的另一个亚基p44特异性地相互作用，并且这种相互作用导致了5‘->；3’解旋酶活性的刺激。在大多数患者中发现的XPD C末端区域的突变阻止了与P44的相互作用，从而解释了XPD解旋酶活性降低和核苷酸切除修复(NER)缺陷的原因。
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 (ref 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.