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An ATM homologue from Arabidopsis thaliana: complete genomic organisation and expression analysis.

机译:来自拟南芥的ATM同源物:完整的基因组组织和表达分析。

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摘要

ATM is a gene mutated in the human disease ataxia telangiectasia with reported homologues in yeast, Drosophila, Xenopus and mouse. Whenever mutants are available they all indicate a role of this gene family in the cellular response to DNA damage. Here, we present the identification and molecular characterisation of the first plant homologue of ATM. The genomic locus of AtATM ( Arabidopsis thaliana homologue of ATM ) spans over 30 kb and is transcribed into a 12 kb mRNA resulting from the splicing of 79 exons. It is a single copy gene and maps to the long arm of chromosome 3. Transcription of AtATM is ubiquitous and not induced by ionising radiation. The putative protein encoded by AtATM is 3856 amino acids long and contains a phosphatidyl inositol-3 kinase-like (Pi3k-l) domain and a rad3 domain, features shared by other members of the ATM family. The AtAtm protein is highly similar to Atm, with 67 and 45% similarity in the Pi3k-l and rad3 domains respectively. Interestingly, the N-terminal portion of the protein harbours a PWWP domain, which is also present in other proteins involved in DNA metabolism such as human mismatch repair enzyme Msh6 and the mammalian de novo methyl transferases, Dnmt3a/b.
机译:ATM是人类疾病共济失调毛细血管扩张症中的一种突变基因,据报道该基因在酵母,果蝇,非洲爪蟾和小鼠中具有同源性。只要有突变体,它们都表明该基因家族在细胞对DNA损伤的反应中的作用。在这里,我们介绍ATM的第一个植物同源物的鉴定和分子表征。 AtATM(ATM的拟南芥同源物)的基因组位点跨度超过30 kb,并转录成12 kb的mRNA,这是由79个外显子的剪接产生的。它是一个单拷贝基因,定位于3号染色体的长臂。AtATM的转录无处不在,不受电离辐射的诱导。由AtATM编码的推定蛋白长3856个氨基酸,并包含磷脂酰肌醇3激酶样(Pi3k-1)域和rad3域,这些特征与ATM家族的其他成员共有。 AtAtm蛋白与Atm高度相似,在Pi3k-1和rad3结构域中分别具有67和45%的相似性。有趣的是,该蛋白质的N端部分带有一个PWWP域,该域也存在于其他参与DNA代谢的蛋白质中,例如人错配修复酶Msh6和哺乳动物从头甲基转移酶Dnmt3a / b。

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