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

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.

Integrity signals

Registry

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

Cites

57 of 57 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • In xeroderma pigmentosum patients with mutations affecting subunits of the core of TFIIH, RARα is not efficiently phosphorylated by cdk7, with downstream consequences on the expression of RAR target genes.

    “In line with this hypothesis, in xeroderma pigmentosum patients, who are characterized by mutations affecting subunits of the core of the general transcription factor TFIIH, RAR ␣ is not effi ciently phosphorylated by cdk7, with characteristic downstream consequences on the expression of RAR target genes ( 162 ).”
  • Deficient phosphorylation in xeroderma pigmentosum patients has been correlated at least in part to the clinical abnormalities of the patients.

    “This defi cient phosphorylation has been correlated at least in part to the clinical abnormalities of the patients.”

Cites

Flagged first, then by citations

2 of the 59 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review