title: Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction.
abstract: The gene responsible for the defect in the human genetic disorder ataxia-telangiectasia, ATM, was cloned recently. The part of the gene coding for a phosphatidylinositol 3-kinase domain showed it to be related to a family of genes involved in signal transduction, cell cycle control and the response to DNA damage. The elucidation of the role of the ATM gene product will provide valuable insight into the radiosensitivity, cancer predisposition, immunodeficiency and neuropathology that characterize this syndrome.
authors.affiliation: Queensland Institute of Medical Research, The Bancroft Centre and Department of Surgery, University of Queensland, Post Office, Royal Brisbane Hospital, Herston, Australia. martinL@qimr.edu.ea
authors.forename: M F
authors.initials: MF
authors.lastname: Lavin
authors.forename: Y
authors.initials: Y
authors.lastname: Shiloh
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000532:radiotherapy; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins; D006801:Humans; D016350:Leucine Zippers / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics; D011836:Radiation Tolerance / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases