Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span.

@article{Watson2013AtrxDI,
  title={Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span.},
  author={Leslie A. Watson and Lauren A. Solomon and Jennifer Ruizhe Li and Yan Jiang and Matthew Edwards and Kazuo Shin-Ya and Frank M. Beier and Nathalie G B{\'e}rub{\'e}},
  journal={The Journal of clinical investigation},
  year={2013},
  volume={123 5},
  pages={2049-63}
}
Human ATRX mutations are associated with cognitive deficits, developmental abnormalities, and cancer. We show that the Atrx-null embryonic mouse brain accumulates replicative damage at telomeres and pericentromeric heterochromatin, which is exacerbated by loss of p53 and linked to ATM activation. ATRX-deficient neuroprogenitors exhibited higher incidence of telomere fusions and increased sensitivity to replication stress-inducing drugs. Treatment of Atrx-null neuroprogenitors with the G… CONTINUE READING
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