Article
Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.
The Journal of clinical investigation - 1 Jun 2009
Nijnik Anastasia, Dawson Sara, Crockford Tanya L, Woodbine Lisa, Visetnoi Supawan, Bennett Sophia, Jones Margaret, Turner Gareth D, Jeggo Penelope A, Goodnow Christopher C, Cornall Richard J
Abstract excerpt
Hypomorphic mutations in DNA ligase IV (LIG4) cause a human syndrome of immunodeficiency, radiosensitivity, and growth retardation due to defective DNA repair by the nonhomologous end-joining (NHEJ) pathway. Lig4-null mice are embryonic lethal, and better mouse models are needed to study human LigIV syndrome. We recently identified a viable mouse strain with a Y288C hypomorphic mutation in the Lig4 gene....
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