Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

Buck, Dietke; Moshous, Despina; de Chasseval, Régina; Ma, Yunmei; Le Deist, Françoise; Cavazzana, Marina; Fischer, Alain; Casanova, Jean‐Laurent; R. Lieber, Michael; de Villartay, Jean‐Pierre

doi:10.1002/eji.200535401

Public

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

Published in European Journal of Immunology • Dec 16, 2005

Authors:

Dietke Buck

Despina Moshous

Régina de Chasseval

Abstract

DNA double-strand breaks (dsb) during V(D)J recombination of T and B lymphocyte receptor genes are resolved by the non-homologous DNA end joining pathway (NHEJ) including at least six factors: Ku70, Ku80, DNA-PK(cs), Artemis, Xrcc4, and DNA ligase IV (Lig4). Artemis and Lig4 are the only known V(D)J...

Subject

DNA ligase

Biology

Ku80

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