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Ubiquitination and Fanconi Anemia

Ubiquitination and Fanconi Anemia

PhD/Honours project

Ubiquitin is a small protein that is covalently attached to proteins to alter their function. In the cancer predisposition disorder Fanconi anemia, defective FANCA some how causes the attachment of ubiquitin to FANCD2 to fail. This apparently simple defect results in phenotypes of bone marrow failure, developmental defects and increased rates of leukaemia and solid tumours.

We have developed a biochemical system to study this important ubiquitination reaction.  This project aims to test the biochemical mechanism by which this ubiquitination occurs, and how FANCA protein works in the reaction. A combination of approaches using the latest technologies will also test how patient associated mutations in FANCA cause Fanconi Anaemia.  This will be combined with cell-based assays investigating the mechanism by which defects in ubiquitination lead to leukaemia predisposition.

Supervised by:

  • Dr Andrew Deans
  • Disease Focus:

  • Cancer
  • Research Unit:

  • Genome stability