Article
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Molecular and cellular biology - 1 Dec 2008
Bernardes de Jesus Bruno M, Bjørås Magnar, Coin Frédéric, Egly Jean Marc
Abstract excerpt
XPC is responsible for DNA damage sensing in nucleotide excision repair (NER). Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C). Here, we analyzed the biochemical properties behind mutations found within three patients: one amino acid substitution (P334H, XP1MI, and GM02096), one amino acid incorporation in a conserved domain (697insVal, XP8BE, and GM02249), and a stop mutation...
Topics
- DNA
- DNA Damage
- DNA Repair
- DNA-Binding Proteins
- Fibroblasts
- Humans
- Mutation
- Protein Stability
- Transcription Factor TFIIH
- Xeroderma Pigmentosum