Fanconi Anemia Type C gene

US5681942A · kind A · utility

Assignees

• HSC Research and Development Limited Partnership · CA
• The United Medical And Dental Schools of Guy's and St. Thomas's Hospitals · GB

Inventors

• Manuel Buchwald · Toronto, CA
• Craig Strathdee · Watertown, US
• Rachel Wevrick · Menlo Park, US
• Christopher George Porter Mathew · London, GB

Key dates

• Filing date: May 15, 1995
• Grant date: Oct 28, 1997
• Expiry date: May 15, 2015

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12N2710/16243
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, (type C) the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie Fanconi Anemia Type C. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.