Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

@inproceedings{Trimborn2010EstablishmentOA,
  title={Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function},
  author={Marc Trimborn and Mahdi Ghani and Diego J. Walther and Monika Dopatka and V{\'e}ronique Dutrannoy and Andreas Busche and Franziska Meyer and Stefanie Nowak and J Joshua Nowak and Claus Zabel and Joachim Klose and Veronica Esquitino and Masoud Garshasbi and Andreas W Kuss and H. -H. Ropers and Susanne Mueller and Charlotte Poehlmann and Ioannis Gavvovidis and Detlev Schindler and Karl Sperling and Heidemarie Neitzel},
  booktitle={PloS one},
  year={2010}
}
Mutations in the human gene MCPH1 cause primary microcephaly associated with a unique cellular phenotype with premature chromosome condensation (PCC) in early G2 phase and delayed decondensation post-mitosis (PCC syndrome). The gene encodes the BRCT-domain containing protein microcephalin/BRIT1. Apart from its role in the regulation of chromosome condensation, the protein is involved in the cellular response to DNA damage. We report here on the first mouse model of impaired Mcph1-function. The… CONTINUE READING
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