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Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

Author

Listed:
  • Eliezer Calo

    (Massachusetts Institute of Technology
    David H. Koch Institute for Integrative Cancer Research)

  • Bo Gu

    (Stanford University School of Medicine)

  • Margot E. Bowen

    (Stanford University School of Medicine)

  • Fardin Aryan

    (Massachusetts Institute of Technology)

  • Antoine Zalc

    (Stanford University School of Medicine)

  • Jialiang Liang

    (Massachusetts Institute of Technology)

  • Ryan A. Flynn

    (Stanford University)

  • Tomek Swigut

    (Stanford University School of Medicine)

  • Howard Y. Chang

    (Center for Personal Dynamic Regulomes, Stanford University)

  • Laura D. Attardi

    (Stanford University School of Medicine
    Stanford University School of Medicine)

  • Joanna Wysocka

    (Stanford University School of Medicine
    Stanford University School of Medicine
    Howard Hughes Medical Institute, Stanford School of Medicine, Stanford University)

Abstract

Mutations associated with Treacher Collins syndrome perturb the subnuclear localization of an RNA helicase involved in ribosome biogenesis through activation of p53 protein, illustrating how disruption in general regulators that compromise nucleolar homeostasis can result in tissue-selective malformations.

Suggested Citation

  • Eliezer Calo & Bo Gu & Margot E. Bowen & Fardin Aryan & Antoine Zalc & Jialiang Liang & Ryan A. Flynn & Tomek Swigut & Howard Y. Chang & Laura D. Attardi & Joanna Wysocka, 2018. "Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders," Nature, Nature, vol. 554(7690), pages 112-117, February.
    • Handle: RePEc:nat:nature:v:554:y:2018:i:7690:d:10.1038_nature25449
    DOI: 10.1038/nature25449
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    Cited by:

    1. Yu Shi & Daochao Huang & Cui Song & Ruixue Cao & Zhao Wang & Dan Wang & Li Zhao & Xiaolu Xu & Congyu Lu & Feng Xiong & Haowen Zhao & Shuxiang Li & Quansheng Zhou & Shuyue Luo & Dongjie Hu & Yun Zhang , 2024. "Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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