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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]

CollectionsANU Research Publications
Date published: 2009-05-18
Type: Journal article
Source: Journal of Clinical Investigation
DOI: 10.1172/JCI32743


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