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Article

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

Human mutation - 1 Feb 2010

Khan Sikandar G, Yamanegi Koji, Zheng Zhi-Ming, Boyle Jennifer, Imoto Kyoko, Oh Kyu-Seon, Baker Carl C, Gozukara Engin, Metin Ahmet, Kraemer Kenneth H

Abstract excerpt

Mutations in two branch-point sequences (BPS) in intron 3 of the XPC DNA repair gene affect pre-mRNA splicing in association with xeroderma pigmentosum (XP) with many skin cancers (XP101TMA) or no skin cancer (XP72TMA), respectively. To investigate the mechanism of these abnormalities we now report that transfection of minigenes with these mutations revealed abnormal XPC pre-mRNA splicing that mimicked pre-mRNA...

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Source

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Identifiers

PMID: 19953607
DOI: 10.1002/humu.21166
PMCID: PMC2815018

Genes

XPC

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.

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XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.PMID 19953607Read ↗

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