An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

@article{Maser2001AnAM,
  title={An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele},
  author={Richard S. Maser and Robert A. Zinkel and John H Petrini},
  journal={Nature Genetics},
  year={2001},
  volume={27},
  pages={417-421}
}
Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity and radioresistant DNA synthesis–S phase checkpoint deficiency, which results in the failure to suppress DNA replication origins following DNA damage. Approximately 90% of NBS patients are homozygous for the 657del5 allele, a truncating mutation of NBS1 that causes premature termination at codon 219. Because null mutations in MRE11 and RAD50, which encode binding… CONTINUE READING
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Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice

  • J. Zhu, S. Petersen, Tessarolla, A. Nussenzweig
  • Curr. Biol
  • 2001

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