A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Galit Rotman, Yael Ziv, Lina Vanagaite, Danilo A. Tagle, Sara Smith, Tamar Uziel, Sharon Sfez, Maya Ashkenazi, Iris Pecker, Moshe Frydman, Reli Harnik, Sankhavaram R. Patanjali, Andrew Simmons, Gregory A. Clines, Adam Sartiel, Richard A. Gatti, Luciana ChessaOzden Sanal, Martin F. Lavin, N. G.J. Jaspers, A. Malcolm R. Taylor, Colin F. Arlett, Toru Miki, Sherman M. Weissman, Michael Lovett, Francis S. Collins, Yosef Shiloh

Research output: Contribution to journalArticlepeer-review

Abstract

A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3′ kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.

Original languageEnglish
Pages (from-to)1749-1753
Number of pages5
JournalScience
Volume268
Issue number5218
DOIs
StatePublished - 1995

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