共济失调毛细血管扩张症基因的小鼠同源物Atm的鉴定及染色体定位。

Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene.

作者信息

Pecker I, Avraham K B, Gilbert D J, Savitsky K, Rotman G, Harnik R, Fukao T, Schröck E, Hirotsune S, Tagle D A, Collins F S, Wynshaw-Boris A, Ried T, Copeland N G, Jenkins N A, Shiloh Y, Ziv Y

机构信息

Department of Human Genetics, Tel Aviv University, Ramat Aviv, 69978, Israel.

出版信息

Genomics. 1996 Jul 1;35(1):39-45. doi: 10.1006/geno.1996.0320.

DOI:10.1006/geno.1996.0320

PMID:8661102

Abstract

Atm, the mouse homolog of the human ATM gene defective in ataxia-telangiectasia (A-T), has been identified. The entire coding sequence of the Atm transcript was cloned and found to contain an open reading frame encoding a protein of 3066 amino acids with 84% overall identity and 91% similarity to the human ATM protein. Variable levels of expression of Atm were observed in different tissues. Fluorescence in situ hybridization and linkage analysis located the Atm gene on mouse chromosome 9, band 9C, in a region homologous to the ATM region on human chromosome 11q22-q23.

摘要

已鉴定出Atm，它是人类共济失调毛细血管扩张症（A-T）中缺陷的ATM基因的小鼠同源物。克隆了Atm转录本的整个编码序列，发现其包含一个开放阅读框，该开放阅读框编码一个由3066个氨基酸组成的蛋白质，与人类ATM蛋白的总体一致性为84%，相似性为91%。在不同组织中观察到Atm的表达水平存在差异。荧光原位杂交和连锁分析将Atm基因定位在小鼠9号染色体9C带，该区域与人类11号染色体q22-q23上的ATM区域同源。