Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly - PubMed (original) (raw)
Case Reports
. 2006 Jan 27;124(2):287-99.
doi: 10.1016/j.cell.2005.12.030.
Laurent Malivert, Régina de Chasseval, Anne Barraud, Marie-Claude Fondanèche, Ozden Sanal, Alessandro Plebani, Jean-Louis Stéphan, Markus Hufnagel, Françoise le Deist, Alain Fischer, Anne Durandy, Jean-Pierre de Villartay, Patrick Revy
Affiliations
- PMID: 16439204
- DOI: 10.1016/j.cell.2005.12.030
Free article
Case Reports
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
Dietke Buck et al. Cell. 2006.
Free article
Abstract
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 instability, developmental delay, and various forms of immunodeficiency. Here we describe five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T+B lymphocytopenia. An increased cellular sensitivity to ionizing radiation, a defective V(D)J recombination, and an impaired DNA-end ligation process both in vivo and in vitro are indicative of a general DNA repair defect in these patients. All five patients carry mutations in the Cernunnos gene, which was identified through cDNA functional complementation cloning. Cernunnos/XLF represents a novel DNA repair factor essential for the NHEJ pathway.
Comment in
- DNA double-strand break repair: a relentless hunt uncovers new prey.
Sekiguchi JM, Ferguson DO. Sekiguchi JM, et al. Cell. 2006 Jan 27;124(2):260-2. doi: 10.1016/j.cell.2006.01.010. Cell. 2006. PMID: 16439201 Review.
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