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Article

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

Nature genetics - 1 Oct 1998

Coin F, Marinoni J C, Rodolfo C, Fribourg S, Pedrini A M, Egly J M

Abstract excerpt

In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (refs 1,2). In this study, we demonstrate that XPD interacts specifically with p44, another subunit of TFIIH, and that this interaction results in the stimulation...

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PMID: 9771713
DOI: 10.1038/2491

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

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.PMID 9771713Read ↗

Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.Semantic proximity Read ↗

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

XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.Semantic proximity Read ↗

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

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.Semantic proximity Read ↗

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.Semantic proximity Read ↗

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

The interaction of XPG with TFIIH through p62 and XPD is required for the completion of nucleotide excision repair.Semantic proximity Read ↗

Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases.Semantic proximity Read ↗

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.Semantic proximity Read ↗

The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repairSemantic proximity Read ↗

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

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