Award Amount: $150,000
PI: L.B. Schook, J.E. Beever, C.M. Counter
Start Date: September 1, 2002
End Date: August 30, 2004
Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks children, causing progressive loss of muscle control, immune system problems, and a high rate of cancer. A-T affects a large variety of systems in the body, causing symptoms that affect health and daily living. The A-T Children's Project funds international research in an effort to find life-improving therapies and a cure for A-T.
This project focused on developing a porcine model of A-T. The majority of A-T patients carry truncating mutations in the ATM gene resulting in prematurely terminated proteins that are highly unstable. To develop a relevant porcine model, ATM transcripts were sequenced, the 5'-untranslated region (5'UTR) was characterized, splice variants were identified, and constructs were developed for gene targeting. Similar to humans, the porcine ATM gene exhibits extensive alternative splicing. Unlike in humans, it involves not only the 5'UTR, but also coding regions. The similarity of the porcine gene to its human counterpart with regards to the extensive splicing makes the pig a more relevant model for A-T.