Stalled RNA polymerase processing in transcription-coupled nucleotide-excision repair

2014 Fiscal Year Final Research Report

• Project/Area Number: 24681008
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Partial Multi-year Fund
• Research Field: Risk sciences of radiation/Chemicals
• Research Institution: Nagasaki University
• Principal Investigator: OGI Tomoo 長崎大学, 原爆後障害医療研究所, 准教授 (80508317)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: ヌクレオチド除去修復

Outline of Final Research Achievements

UV-sensitive syndrome (UVSS) is characterised by sun-sensitivity without any devastating symptoms. Despite mild clinical manifestations, UVSS-patient cells display complete-null phenotype in transcription-coupled nucleotide-excision repair (TC-NER) activity. Our laboratory identified UVSS pathogenic mutations in the KIAA1530 / UVSSA gene. The UVSSA protein facilitates stable-ubiquitination of RNA polymerase stalled at UV-DNA damage. This stable-ubiquitination is compromised in UVSS-patient cells although RNA polymerase is degraded under a different ubiquitination mechanism.

Free Research Field

DNA修復・人類遺伝学・皮膚科学