DNA single-strand break repair and spinocerebellar ataxia.
DNA single-strand break repair (SSBR) is critical for the survival and genetic stability of mammalian cells. Three papers have recently associated mutations in putative human SSBR genes with hereditary spinocerebellar ataxia. The emerging links between SSBR and neurodegenerative disorders are discussed.
Caldecott
Keith W
KW
Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton, BN1 9RQ, United Kingdom. k.w.caldicott@sussex.ac.uk
D000595:Amino Acid Sequence; D016923:Cell Death; D017124:Conserved Sequence; D004249:DNA Damage / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D004264:DNA Topoisomerases, Type I / Q000378:metabolism; D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000503:physiopathology; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D011116:Polynucleotide 5'-Hydroxyl-Kinase / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology
C438188:APTX protein, human; D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D011116:Polynucleotide 5'-Hydroxyl-Kinase; D004264:DNA Topoisomerases, Type I