WARF: P98166US

DNA Encoding a DNA Repair Protein


John H. J. Petrini, William Morgan, Richard Maser, James Carney

The Wisconsin Alumni Research Foundation (WARF) is seeking commercial partners interested in developing a DNA molecule encoding p95, a DNA repair protein that is a product of the defective gene in the disorder NBS.
OVERVIEWNijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, higher incidence of cancer, cell cycle defects and radiation sensitivity.
THE INVENTIONUW-Madison researchers had developed an isolated and purified DNA molecule encoding p95, a DNA repair protein. p95 is a product of the NBS1 gene, the defective gene in the disorder NBS. It also is an integral member of the double strand break repair complex, the function of which is impaired in cells from NBS patients.

Among other uses, this discovery provides an assay in which agents that increase or decrease the activity of p95 can be identified by first expressing p95 in a cell line. Some of the cells are then exposed to the agent, and the amount of p95 is measured relative to that of the control cells.
  • Identifying patients at risk for NBS
  • May be used as preventive therapy for individuals exposed to agents that mediate DNA damage
  • May provide means to alter the amount of a DNA repair polypeptide in a cell
  • May be used to develop both monoclonal and polyclonal antibodies against p95
  • Could provide means to detect a predisposition for cancer in humans, because people with lower amounts of p95 RNA show a greater cancer risk
  • Supplementation with p95 protein may be used to treat NBS.
Contact Information
For current licensing status, please contact Jennifer Gottwald at or 608-960-9854.
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