[HTML][HTML] Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity
E Riballo, AJ Doherty, Y Dai, T Stiff… - Journal of Biological …, 2001 - ASBMB
DNA ligase IV functions in DNA non-homologous end-joining, in V (D) J recombination, and
during brain development. We previously reported a homozygous mutation (R278H) in DNA
ligase IV in a developmentally normal leukemia patient who overresponded to radiotherapy.
The impact of this hypomorphic mutation has been evaluated using cellular, biochemical,
and structural approaches. Structural modeling using T7 DNA ligase predicts that the activity
and conformational stability of the protein is likely to be impaired. We show that wild type …
during brain development. We previously reported a homozygous mutation (R278H) in DNA
ligase IV in a developmentally normal leukemia patient who overresponded to radiotherapy.
The impact of this hypomorphic mutation has been evaluated using cellular, biochemical,
and structural approaches. Structural modeling using T7 DNA ligase predicts that the activity
and conformational stability of the protein is likely to be impaired. We show that wild type …
