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Article

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Nature genetics - 1 May 2012

Zhang Xue, Horibata Katsuyoshi, Saijo Masafumi, Ishigami Chie, Ukai Akiko, Kanno Shin-ichiro, Tahara Hidetoshi, Neilan Edward G, Honma Masamitsu, Nohmi Takehiko, Yasui Akira, Tanaka Kiyoji

Abstract excerpt

UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by photosensitivity and deficiency in transcription-coupled repair (TCR), a subpathway of nucleotide-excision repair that rapidly removes transcription-blocking DNA damage. Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-A and CS-B, which are caused by...

Read the complete abstract on PubMed

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

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Share to Poly-ADP-Ribose Binding Proteins

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Source

Identifiers

PMID: 22466612
DOI: 10.1038/ng.2228

Genes

UVSSA
ERCC6
ERCC8
USP7

Provenance

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 UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.PMID 22466612Read ↗

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.Semantic proximity Read ↗

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.Semantic proximity Read ↗

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.Semantic proximity Read ↗

Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition.Semantic proximity Read ↗

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?Semantic proximity Read ↗

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndromeSemantic proximity Read ↗

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.Semantic proximity Read ↗

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