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TEL1是人类共济失调毛细血管扩张症中发生突变的基因在酿酒酵母中的同源物,在功能上与酵母检查点基因MEC1相关。

TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1.

作者信息

Morrow D M, Tagle D A, Shiloh Y, Collins F S, Hieter P

机构信息

Department of Molecular Biology and Genetics, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA.

出版信息

Cell. 1995 Sep 8;82(5):831-40. doi: 10.1016/0092-8674(95)90480-8.

Abstract

Patients with the genetic disorder ataxia telangiectasia (AT) have mutations in the AT mutated (ATM) gene, which is homologous to TEL1 and the checkpoint gene MEC1. A tel1 deletion mutant, unlike a mec1 deletion, is viable and does not exhibit increased sensitivity to DNA-damaging agents. However, increased dosage of TEL1 rescues sensitivity of a mec1 mutant, mec1-1, to DNA-damaging agents and rescues viability of a mec1 disruption. mec1-1 tel1 delta 1 double mutants are synergistically sensitive to DNA-damaging agents, including radiomimetic drugs. These data indicate that TEL1 and MEC1 are functionally related and that functions of the ATM gene are apparently divided between at least two S. cerevisiae homologs.

摘要

患有遗传性共济失调毛细血管扩张症(AT)的患者,其AT突变(ATM)基因存在突变,该基因与TEL1及检查点基因MEC1同源。与mec1缺失不同,tel1缺失突变体是有活力的,并且对DNA损伤剂不表现出增加的敏感性。然而,增加TEL1的剂量可挽救mec1突变体mec1-1对DNA损伤剂的敏感性,并挽救mec1破坏后的活力。mec1-1 tel1 delta 1双突变体对包括放射模拟药物在内的DNA损伤剂具有协同敏感性。这些数据表明TEL1和MEC1在功能上相关,并且ATM基因的功能显然至少在两个酿酒酵母同源物之间进行了划分。

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