NHEJ deficiency and disease

Mol Cell. 2001 Dec;8(6):1160-1. doi: 10.1016/s1097-2765(01)00424-5.

Abstract

In mouse and human, diseases associated with deficiency of DNA ligase IV, a protein involved in DNA double-strand break repair, have been identified. Manifestation of some of these disease phenotypes, namely tumorigenesis, may require additional checkpoint deficiencies.

MeSH terms

  • Animals
  • DNA Ligase ATP
  • DNA Ligases / deficiency*
  • DNA Ligases / genetics
  • DNA Ligases / metabolism*
  • DNA Repair / genetics
  • Disease Models, Animal
  • Genetic Predisposition to Disease*
  • Humans
  • Mice
  • Mutation
  • Neoplasms / enzymology*
  • Neoplasms / genetics*
  • Phenotype

Substances

  • LIG4 protein, human
  • DNA Ligases
  • DNA Ligase ATP