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Ataxia-telangiectasia (A-T) is a progressive neurological disorder of childhood, associated with increased cancer risk, immunodeficiency, radiosensitivity, and cell cycle defects. In 1988, we localized the gene for A-T to chromosome 11q22-23 by linkage analyses. To fine map the region, we formed an international consortium of over 200 families and localized the gene to within 500 kb by classical linkage analysis. In 1995, the ATM (A-T mutated) gene was cloned and found to be a serine-threonine kinase that plays a hierarchical role in cell signalling and DNA repair. We are presently identifying and characterizing how ATM mutations cause disease in A-T patients. For diagnostic services, we perform immunoblotting and assay radiosensitivity; both require that a cell line be established on each incoming blood sample. This provides a renewal sample for many additional lab studies. Other projects in the lab: 1) analyzing DNA repair and cell signaling proteins on a panel of 40 radiosensitive cell lines from non-AT patients, 2) testing the function of ATM DNA variants in a mutagenesis assay that involves making stable transfections, 3) constructing minigenes for detect aberrant splicing within the many exons in the ATM gene, 4) producing recombinant ATM in a vaccinia expression system, for structural studies of ATM, and 5) aminoglycoside-induced expression of ATM protein as a potential therapeutic approach. This might be useful for about 15% of A-T patients worldwide. Our long-term goals are gene-based therapy and improved diagnostic testing, for patients and carriers. Carriers, like patients, are at an increased risk of cancer.
Ataxia-telangiectasia (A-T) is a progressive neurological disorder of childhood, associated with increased cancer risk, immunodeficiency, radiosensitivity, and cell cycle defects. In 1988, we localized the gene for A-T to chromosome 11q22-23 by linkage analyses. To fine map the region, we formed an international consortium of over 200 families and localized the gene to within 500 kb by classical linkage analysis. In 1995, the ATM (A-T mutated) gene was cloned and found to be a serine-threonine kinase that plays a hierarchical role in cell signalling and DNA repair. We are presently identifying and characterizing how ATM mutations cause disease in A-T patients. For diagnostic services, we perform immunoblotting and assay radiosensitivity; both require that a cell line be established on each incoming blood sample. This provides a renewal sample for many additional lab studies. Other projects in the lab: 1) analyzing DNA repair and cell signaling proteins on a panel of 40 radiosensitive cell lines from non-AT patients, 2) testing the function of ATM DNA variants in a mutagenesis assay that involves making stable transfections, 3) constructing minigenes for detect aberrant splicing within the many exons in the ATM gene, 4) producing recombinant ATM in a vaccinia expression system, for structural studies of ATM, and 5) aminoglycoside-induced expression of ATM protein as a potential therapeutic approach. This might be useful for about 15% of A-T patients worldwide. Our long-term goals are gene-based therapy and improved diagnostic testing, for patients and carriers. Carriers, like patients, are at an increased risk of cancer.
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