IGBMC, Program of Functional Genomics and Cancer, CNRS/INSERM/ULP, BP 163, 67404 Illkirch Cedex, C.U. Strasbourg, France.
DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17.
The TFIIH multiprotein complex is organized into a 7-subunit core associated with a 3-subunit CDK-activating kinase module (CAK). Three enzymatic subunits are present in TFIIH, two ATP-dependent DNA helicases: XPB and XPD, and the kinase Cdk7. Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects. These heterogeneous phenotypes originate from the dual role of TFIIH in transcription and DNA repair. For twenty years, many molecular studies have been conducted with the aim to unveil the role of TFIIH in DNA repair and transcription as well as the origin of the phenotypes of patients. This review intends to give a non-exhaustive survey of the most prominent discoveries on the molecular functioning of TFIIH.
TFIIH 多蛋白复合物组织成一个与 3 亚基 CDK 激活激酶模块(CAK)相关的 7 亚基核心。TFIIH 中存在三个酶亚基,两个 ATP 依赖性 DNA 解旋酶:XPB 和 XPD,以及激酶 Cdk7。三个亚基的突变,XPB、XPD 和 TTDA,导致三种不同的遗传疾病:着色性干皮病(XP)、Cockayne 综合征(CS)和先天性角化不良(TTD),使患者不仅易患癌症和衰老,还易患发育和神经缺陷。这些异质表型源于 TFIIH 在转录和 DNA 修复中的双重作用。二十年来,许多分子研究旨在揭示 TFIIH 在 DNA 修复和转录中的作用,以及患者表型的起源。这篇综述旨在对 TFIIH 分子功能的最突出发现进行非详尽的调查。