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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 features observed in these patients cannot be explained by defects in NER alone. We decided to look at the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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 ↗

A 3′→ 5′ XPB Helicase Defect in Repair/Transcription Factor TFIIH of Xeroderma Pigmentosum Group B Affects Both DNA Repair and TranscriptionSemantic proximity Read ↗

TFIIH: from transcription to clinicSemantic proximity Read ↗

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

Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG.Semantic proximity Read ↗

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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