DNA single-strand break repair and spinocerebellar ataxia

Cell. 2003 Jan 10;112(1):7-10. doi: 10.1016/s0092-8674(02)01247-3.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Cell Death
  • Conserved Sequence
  • DNA Damage / genetics*
  • DNA Repair / genetics*
  • DNA Topoisomerases, Type I / metabolism
  • DNA, Single-Stranded
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Gene Expression Regulation
  • Humans
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / physiopathology
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Polynucleotide 5'-Hydroxyl-Kinase / chemistry
  • Polynucleotide 5'-Hydroxyl-Kinase / genetics*
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology

Substances

  • APTX protein, human
  • DNA, Single-Stranded
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Polynucleotide 5'-Hydroxyl-Kinase
  • DNA Topoisomerases, Type I