Biochemical and functional analysis of ataxia telangiectasia protein

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Project objective

Ataxia Telangiectasia is a severe inherited disease. In its heterozygous form, it is one of the largest hereditary causes of breast cancer. Recently, a gene mutated in Ataxia Telangiectasia patients has been cloned. The predicted amino acidic sequence encodes for a new member of the phosphatidylinositol 3-kinase (PI-3K) family. At the same time, the catalytic subunit of DNA-PK, a kinase that becames activated following DNA binding, has been cloned and showed to be a member of the same family. Both kinases are thought to be involved in the maintenance of chromosomal integrity. Exploiting the skills and the knowledge of the laboratory that cloned the catalytic subunit of DNA-PK and in recognition of the homology between the two kinases, I intend to investigate the role of Ataxia Telangiectasia gene in the cell. To this purpose, I will employ both biochemical and genetic tools. I will try to purify Ataxia Telangiectasia gene product from cultured cells in order to study its kinase activity and how it is regulated. A complementary approach will be to use the two hybrid system to pick up still unknown cellular partners.

Original text from CORDIS.

Participants

• University of Cambridge · CambridgeCoordinatorUnited Kingdom
• Not availableCity levelItaly

Links

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