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Start Over Author "Compe, Emanuel" Topic xeroderma pigmentosum
2 results on '"Compe, Emanuel"'

1. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.

Author

Singh A, Compe E, Le May N, and Egly JM

Subjects
Chromatin Immunoprecipitation, DNA Helicases genetics, DNA Repair genetics, DNA Repair physiology, DNA-Binding Proteins genetics, Humans, Immunoprecipitation, Models, Molecular, Multiprotein Complexes genetics, Mutation genetics, Reverse Transcriptase Polymerase Chain Reaction, Transcription Factors genetics, Transcription, Genetic genetics, Xeroderma Pigmentosum Group D Protein genetics, Chromatin Assembly and Disassembly genetics, Multiprotein Complexes metabolism, Receptors, Retinoic Acid genetics, Transcription Factor TFIIH genetics, Transcription, Genetic physiology, Trichothiodystrophy Syndromes genetics, Xeroderma Pigmentosum genetics
Abstract

Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals., (Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Published
2015
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2. TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription

Author

Coin, Frédéric, Singh, Amita, Compe, Emanuel, Le may, Nicolas, Egly, Jean-Marc, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Coin, Frédéric

Subjects
Models, Molecular, Chromatin Immunoprecipitation, Xeroderma pigmentosum, DNA Repair, Transcription, Genetic, Receptors, Retinoic Acid, [SDV]Life Sciences [q-bio], Trichothiodystrophy, Biology, Cockayne syndrome, Article, Genetics, medicine, Humans, Immunoprecipitation, Trichothiodystrophy Syndromes, Genetics(clinical), Transcription factor, Genetics (clinical), Xeroderma Pigmentosum Group D Protein, Xeroderma Pigmentosum, Reverse Transcriptase Polymerase Chain Reaction, DNA Helicases, medicine.disease, Chromatin Assembly and Disassembly, [SDV] Life Sciences [q-bio], DNA-Binding Proteins, Transcription Factor TFIIH, Multiprotein Complexes, Mutation, Transcription factor II H, ERCC2, Nucleotide excision repair, Transcription Factors
Abstract

International audience; Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals.

Published
2015
Full Text
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