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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype
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Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype

机译:截短的人类拓扑异构酶III的过表达部分纠正了共济失调毛细血管扩张症表型的多个方面

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摘要

Ataxia-telangiectasia (A-T) is a recessive hu- man disease characterized by radiation sensitivity, genetic instability, immunodeficiency, and high cancer risk. We pre- viously used expression cloning to identify CAT4.5, a human cDNA that partially suppresses multiple aspects of the A-T phenotype upon transfection into cultured cells. Sequencing CAT4.5 revealed a 1.1-kb intronic fragment followed by a related ORF of 2.5 kb that encodes the near full-length ORF for hTOP3, the first mammalian topoisomerase III to be identified. Endogenous expression of hTOP3 was found in all human tissues tested.
机译:共济失调毛细血管扩张症(A-T)是一种隐性人类疾病,其特征在于放射敏感性,遗传不稳定,免疫缺陷和高癌症风险。我们以前使用表达克隆来鉴定CAT4.5,这是一种人cDNA,在转染到培养细胞中后会部分抑制A-T表型的多个方面。 CAT4.5测序显示一个1.1 kb的内含子片段,随后是一个2.5 kb的相关ORF,其编码hTOP3(第一个被鉴定的哺乳动物拓扑异构酶III)的近全长ORF。在所有测试的人类组织中均发现了hTOP3的内源性表达。

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