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 accessAbstract
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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In the citing paper
“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 ).”
From Vitamin A and retinoid signaling: genomic and nongenomic effects (2013) · cites this paper as [162]
In the citing paper
“This defi cient phosphorylation has been correlated at least in part to the clinical abnormalities of the patients.”
From Vitamin A and retinoid signaling: genomic and nongenomic effects (2013) · cites this paper as [162]
Citations
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Prevention of Skin Cancer in Xeroderma Pigmentosum with the Use of Oral Isotretinoin
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Research works printed but not linked: 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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Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,081
Rosenfeld, M. G., Lunyak, V. V., & Glass, C. K. (2006) · Genes & Development · doi:10.1101/gad.1424806 · Cited by 952
The General Transcription Machinery and General Cofactors
Thomas, M. C., & Chiang, C. (2006) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409230600648736 · Cited by 992
Nuclear retinoid receptors and the transcription of retinoid-target genes
Bastien, J., & Rochette-Egly, C. (2004) · Gene · doi:10.1016/j.gene.2003.12.005 · Cited by 773
Self-citationControlling nuclear receptors: the circular logic of cofactor cycles
Perissi, V., & Rosenfeld, M. G. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1680 · Cited by 507
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
- bronze
- doi.org
- Licence
- 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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