News Releases & Research Results Elucidation of the genetic mechanism of efficient DNA damage repair - Revelation of the pathogenesis of Cockayne syndrome (progeria), a rare hereditary intractable disease/Establishment of a disease mouse model useful for elucidating the pathological conditions of various aging-related symptoms and developing therapeutic drugs -

News Releases & Research Results


The results of research and development conducted by Professor Tomoo Ogi and Assistant Professor Yuka Nakazawa of the Department of Genetics, Research Institute of Environmental Medicine, Nagoya University.

The key points of R&D are as follows:

  • "RNA synthetase," a protein complex for ribonucleic acid (RNA) transcription, was demonstrated to be recognized with a specific marker (ubiquitination*) for efficient DNA damage repair during gene transcription.
    * A small protein called "ubiquitin," consisting of 76 amino acids, binds to lysine residues in other proteins to promote their degradation and functional activation.
  • A mouse model was created by inhibiting the ubiquitination of RNA synthetase, showing various aging-related symptoms, such as neurological symptoms similar to those of human hereditary progeria such as Cockayne syndrome.
  • The results of R&D should contribute to the elucidation of the pathological conditions of various aging-related human diseases and the development of therapeutic drugs, as well as basic research on transcription.

This R&D project was conducted with the support of Practical Research Project for Rare/Intractable Diseases by AMED.

The results of R&D were published online in the American scientific journal, Cell, on March 6.


Nakazawa Y., et al. Ubiquitination of DNA damage-stalled RNAPII promotes transcription-coupled repair Cell


Last updated 03/06/20