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Article

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

American journal of human genetics - 5 Feb 2015

Singh Amita, Compe Emanuel, Le May Nicolas, Egly Jean-Marc

Abstract excerpt

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...

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Identifiers

PMID: 25620205
DOI: 10.1016/j.ajhg.2014.12.012
PMCID: PMC4320266

Genes

ERCC2
ERCC3

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