Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome
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.
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. Lig4Y288C mice exhibit a greater than 10-fold reduction of LigIV activity in vivo and...[Show more]
|Collections||ANU Research Publications|
|Source:||Journal of Clinical Investigation|
|01_Nijnik_Impaired_lymphocyte_2009.pdf||Published Version||1.82 MB||Adobe PDF|