NHEJ deficiency and disease.
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.
Pierce
A J
AJ
Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.
Jasin
M
M
D000818:Animals; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D004260:DNA Repair / Q000235:genetics; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D009154:Mutation; D009369:Neoplasms / Q000201:enzymology* / Q000235:genetics*; D010641:Phenotype
C000607893:LIG4 protein, human; D011088:DNA Ligases; D000072481:DNA Ligase ATP