Ontology highlight
ABSTRACT:
SUBMITTER: Sarasin A
PROVIDER: S-EPMC3506910 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Genome medicine 20120523 5
Transcription-coupled nucleotide excision repair (TC-NER) specifically removes DNA damage located in actively transcribed genes. Defects in TC-NER are associated with several human disorders, including Cockayne syndrome (CS) and ultraviolet (UV)-sensitive syndrome (UVSS). Using exome sequencing, and genetic and proteomic approaches, three recent studies have identified mutations in the UVSSA gene as being responsible for UVSS-A. These findings suggest a new mechanistic model involving UV-stimula ...[more]