共济失调毛细血管扩张症：一种与信号转导缺陷相关的多方面遗传性疾病。

Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction.

作者信息

Lavin M F, Shiloh Y

机构信息

Queensland Institute of Medical Research, The Bancroft Centre and Department of Surgery, University of Queensland, Post Office, Royal Brisbane Hospital, Herston, Australia.

出版信息

Curr Opin Immunol. 1996 Aug;8(4):459-64. doi: 10.1016/s0952-7915(96)80030-6.

DOI:10.1016/s0952-7915(96)80030-6

PMID:8794004

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.

摘要

导致人类遗传性共济失调毛细血管扩张症（ataxia-telangiectasia）缺陷的基因ATM最近已被克隆。该基因编码磷脂酰肌醇3激酶结构域的部分显示它与参与信号转导、细胞周期控制和对DNA损伤反应的一系列基因相关。对ATM基因产物作用的阐明将为该综合征所特有的放射敏感性、癌症易感性、免疫缺陷和神经病理学提供有价值的见解。