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

doi:10.1073/pnas.2208860120

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 14 Mar 2023

van den Heuvel Diana, Kim Mihyun, Wondergem Annelotte P, van der Meer Paula J, Witkamp Myrèse, Lambregtse Ferdy, Kim Hyun-Suk, Kan Folkert, Apelt Katja, Kragten Angela, González-Prieto Román, Vertegaal Alfred C O, Yeo Jung-Eun, Kim Byung-Gyu, van Doorn Remco, Schärer Orlando D, Luijsterburg Martijn S

Abstract excerpt

XPA is a central scaffold protein that coordinates the assembly of repair complexes in the global genome (GG-NER) and transcription-coupled nucleotide excision repair (TC-NER) subpathways. Inactivating mutations in XPA cause xeroderma pigmentosum (XP), which is characterized by extreme UV sensitivity and a highly elevated skin cancer risk. Here, we describe two Dutch siblings in their late forties carrying a...

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PMID: 36893274
DOI: 10.1073/pnas.2208860120
PMCID: PMC10089173

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A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.PMID 36893274Read ↗

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The role of Transcription Factor IIH complex in nucleotide excision repairSemantic proximity Read ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.Semantic proximity Read ↗

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Every protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair.Semantic proximity Read ↗

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