小鼠Ret原癌基因的基因组组织

D. Panetta, L. Yin, R. Barale, G. Romeo, R. Ravazzolo, Isabella Ceccherinp, A. Pulit
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引用次数: 3

摘要

RET原癌基因参与肾脏和神经嵴衍生组织的发育。RET有害突变可引起遗传性神经内分泌肿瘤和先天性肠神经节病。正在进行的旨在阐明该基因功能的工作包括在不同物种和转基因小鼠中的表达研究。作为小鼠Ret表达研究的第一步,我们获得了小鼠Ret基因组结构。确定内含子和外显子的边界并测序,扩增和克隆除第一个内含子外的所有内含子,并将外显子定位在限制子图中。小鼠与人类基因比较表明,除外显子21在小鼠中不保守外,其他基因组组织高度保守。测序了一个延伸至第一个外显子386 bp 5 '的区域,并与人类的对应区域进行了比较。据报道,人类启动子的一些特征,如没有TATA或CAAT盒和高GC含量,是保守的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomic Organisation of the Mouse Ret Proto-Oncogene
The RET proto-oncogene is involved in the development of both kidney and neural crests derived tissues. RET deleterious mutations cause hereditary neuroendocrine tumours and congenital intestinal agangliono-sis. Ongoing efforts aimed at elucidating the function of this gene include expression studies in different species and in transgenic mice. As first step in the study of Ret expression in mouse, we obtained the mouse Ret genomic structure. Intron-exon boundaries were determined and sequenced, all introns but the first one were amplified and cloned, and exons positioned in a restriction map. Mouse and human genes comparison indicates a highly conserved genomic organisation, except for exon 21 which is not conserved in mouse. A region extending 386 bp 5′ to the first exon was sequenced and compared with its human counterpart. Some features, reported for the human promoter, like the absence of TATA or CAAT boxes and a high GC content, are conserved.
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