Cited by 192DNA Repair MechanismsNuclear Structure and FunctionGenomics and Chromatin Dynamics

The DOI matches its Crossref record; 57 of the 59 references it cites were found in a registry or an index.

XPD Mutations Prevent TFIIH-Dependent Transactivation by Nuclear Receptors and Phosphorylation of RARα

Open access
Keriel, Anne, Stary, Anne, Sarasin, Alain, Rochette-Egly, Cécile, Egly, Jean-Marc·2002·Cell

Abstract

Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect. In cells derived from XP-D patients, we observed a reduction of the ligand-dependent transactivation mediated by several nuclear receptors (RARalpha, ERalpha, and AR). We demonstrate that the XPD mutation alters cdk7 function in RARalpha phosphorylation. Transactivation is restored upon overexpression of either the wild-type XPD or the RARalphaS77E (a mutation which mimics phosphorylated RARalpha). Thus, we demonstrate that the cdk7 kinase of TFIIH phosphorylates the nuclear receptor, then allowing ligand-dependent control of the activation of the hormone-responsive genes.

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Crossref · 10.1016/s0092-8674(02)00692-x

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Research works printed but not linked: 1

  1. Keriel, A., and Egly, J.M. (2001). Chapter 8: Activation of cdks by CAK; CAK in TFIIH. In The CDK-Activating Kinase (CAK), (P. Kaldis, ed.: Landes Bioscience).

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Metadata

Authors
Keriel, A., Stary, A., Sarasin, A., Rochette-Egly, C., & Egly, J.-M.
Affiliations
Centre National de la Recherche Scientifique (FR)
Corresponding author
Egly, Jean-Marc
Venue
Cell
Publisher
Elsevier BV
Published
2002-04
Volume
109
Issue
1
Pages
125-135
ISSN
0092-8674 (ISSN-L)
OpenAlex
W2030054148
Cited by
192
References
59
Citations by year
2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 4 · 2020: 5 · 2019: 3 · 2018: 5 · 2017: 3 · 2016: 5 · 2015: 7 · 2014: 12 · 2013: 9 · 2012: 8
FWCI
5.69
Type
journal article
Language
en
Open access
Locations
  • Cell (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords
XPD, TFIIH, xeroderma pigmentosum, nuclear receptors, RARα, CDK7, ligand-dependent transactivation, estrogen receptor alpha, androgen receptor, transcriptional regulation, DNA repair
MeSH terms
Retinoic Acid Receptor alpha, Cyclin-Dependent Kinase-Activating Kinase, Animals, Cell Nucleus, DNA Helicases, DNA-Binding Proteins, Fibroblasts, Gene Expression Regulation, HeLa Cells, Humans, Mutation, Phosphorylation, Proteins, Transcription Factors, Transcription, Genetic, Xeroderma Pigmentosum, Signal Transduction, Transcriptional Activation, Protein Serine-Threonine Kinases, Receptors, Cytoplasmic and Nuclear, Receptors, Retinoic Acid, Cyclin-Dependent Kinases, Transcription Factors, TFII, Transcription Factor TFIIH, Xeroderma Pigmentosum Group D Protein

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