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卵类黏蛋白间隔序列决定功能域并产生蛋白质多态性。

Ovomucoid intervening sequences specify functional domains and generate protein polymorphism.

作者信息

Stein J P, Catterall J F, Kristo P, Means A R, O'Malley B W

出版信息

Cell. 1980 Oct;21(3):681-7. doi: 10.1016/0092-8674(80)90431-6.

Abstract

Two thirds of the natural chicken ovomucoid gene has been sequenced, including all exons and the intron sequences surrounding all fourteen intron/exon junctions. The junction sequences surrounding four of the introns are redundant; however, the sequences surrounding the other three introns contain no redundancies and thus the splicing sites at either end of these three introns are unambiguous. The splicing in all cases conforms to the GT-AG rule. The ovomucoid gene sequence around intron F can be used to predict the cause of an internal deletion polymorphism in the ovomucoid protein, which is an apparent error in the processing of the ovomucoid pre-mRNA. We also compare the structural organization of the ovomucoid gene with the ovomucoid protein sequence to examine theories of the evolution of ovomucoids as well as the origin of intervening sequences. This analysis suggests that the present ovomucoid gene evolved from a primordial ovomucoid gene by two separate intragenic duplications. Furthermore, sequence analyses suggest that introns were present in the primordial ovomucoid gene before birds and mammals diverged, about 300 million years ago. Finally, the positions of the introns within the ovomucoid gene support the theory that introns separate gene segments that code for functional domains of proteins and provide insight on the manner by which eucaryotic genes were constructed during the process of evolution.

摘要

天然鸡卵类黏蛋白基因的三分之二已被测序,包括所有外显子以及围绕所有14个内含子/外显子连接点的内含子序列。四个内含子周围的连接序列是冗余的;然而,其他三个内含子周围的序列没有冗余,因此这三个内含子两端的剪接位点是明确的。所有情况下的剪接都符合GT-AG规则。内含子F周围的卵类黏蛋白基因序列可用于预测卵类黏蛋白蛋白质内部缺失多态性的原因,这是卵类黏蛋白前体mRNA加工过程中的一个明显错误。我们还将卵类黏蛋白基因的结构组织与卵类黏蛋白蛋白质序列进行比较,以研究卵类黏蛋白的进化理论以及间隔序列的起源。该分析表明,目前的卵类黏蛋白基因是通过两次独立的基因内复制从原始卵类黏蛋白基因进化而来的。此外,序列分析表明,内含子在大约3亿年前鸟类和哺乳动物分化之前就存在于原始卵类黏蛋白基因中。最后,卵类黏蛋白基因内内含子的位置支持了这样一种理论,即内含子将编码蛋白质功能域的基因片段分开,并为真核基因在进化过程中的构建方式提供了见解。

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