Article
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Cell - 27 Jan 2006
Buck Dietke, Malivert Laurent, de Chasseval Régina, Barraud Anne, Fondanèche Marie-Claude, Sanal Ozden, Plebani Alessandro, Stéphan Jean-Louis, Hufnagel Markus, le Deist Françoise, Fischer Alain, Durandy Anne, de Villartay Jean-Pierre, Revy Patrick
Abstract excerpt
DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system. DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes. Failure to properly repair DSBs results in genetic...
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