Genomic Instability, Defective Spermatogenesis, Immunodeficiency, and Cancer in a Mouse Model of the RIDDLE Syndrome

@inproceedings{Bohgaki2011GenomicID,
  title={Genomic Instability, Defective Spermatogenesis, Immunodeficiency, and Cancer in a Mouse Model of the RIDDLE Syndrome},
  author={Toshiyuki Bohgaki and Miyuki Bohgaki and Renato Barreto Cardoso and St{\'e}phanie Panier and Dimphy Zeegers and Li Li and Grant S Stewart and Otto S{\'a}nchez and Manoor Prakash Hande and Daniel Durocher and Anne Hakem and Razqallah Hakem},
  booktitle={PLoS genetics},
  year={2011}
}
Eukaryotic cells have evolved to use complex pathways for DNA damage signaling and repair to maintain genomic integrity. RNF168 is a novel E3 ligase that functions downstream of ATM,γ-H2A.X, MDC1, and RNF8. It has been shown to ubiquitylate histone H2A and to facilitate the recruitment of other DNA damage response proteins, including 53BP1, to sites of DNA break. In addition, RNF168 mutations have been causally linked to the human RIDDLE syndrome. In this study, we report that Rnf168(-/-) mice… CONTINUE READING
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