Enzyme Research
Scientists at Children's Hospital Boston release new data on enzyme research
Published in Genetics and Environmental Business Week, March 18th, 2010
Fresh data on enzyme research are presented in the report 'Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.' According to a study from the United States, "DNA ligase IV (LIG4) is an essential component of the nonhomologous end-joining (NHEJ) repair pathway and plays a key role in V(D)J recombination. Hypomorphic LIG4 mutations in humans are associated with increased cellular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental delay, and a variable degree of immunodeficiency."
"We have generated a knock-in mouse model with a homozygous Lig4 R278H mutation that...
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