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Article

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

The EMBO journal - 1 Mar 1999

Coin F, Bergmann E, Tremeau-Bravard A, Egly J M

Abstract excerpt

As part of TFIIH, XPB and XPD helicases have been shown to play a role in nucleotide excision repair (NER). Mutations in these subunits are associated with three genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The strong heterogeneous clinical...

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Source

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Identifiers

PMID: 10064601
DOI: 10.1093/emboj/18.5.1357
PMCID: PMC1171225

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10064601-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.PMID 10064601Read ↗

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TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.Semantic proximity Read ↗

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A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.Semantic proximity Read ↗

ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.Semantic proximity Read ↗

A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.Semantic proximity Read ↗

TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.Semantic proximity Read ↗

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.Semantic proximity Read ↗

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.Semantic proximity Read ↗

The Role of TFIIH Complex in Nucleotide Excision RepairSemantic proximity Read ↗

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.Semantic proximity Read ↗

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