Ontology highlight
ABSTRACT:
SUBMITTER: Rucci F
PROVIDER: S-EPMC2840307 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Rucci Francesca F Notarangelo Luigi D LD Fazeli Alex A Patrizi Laura L Hickernell Thomas T Paganini Tiziana T Coakley Kristen M KM Detre Cynthia C Keszei Marton M Walter Jolan E JE Feldman Lauren L Cheng Hwei-Ling HL Poliani Pietro Luigi PL Wang Jing H JH Balter Barbara B BB Recher Mike M Andersson Emma-Maria EM Zha Shan S Giliani Silvia S Terhorst Cox C Alt Frederick W FW Yan Catherine T CT
Proceedings of the National Academy of Sciences of the United States of America 20100201 7
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 corresponds to the first LIG4 mutation reported in human ...[more]