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人突触结合蛋白(膜联蛋白VII)基因的不同结构及定位于10号染色体

Divergent structure of the human synexin (annexin VII) gene and assignment to chromosome 10.

作者信息

Shirvan A, Srivastava M, Wang M G, Cultraro C, Magendzo K, McBride O W, Pollard H B, Burns A L

机构信息

Laboratory of Cell Biology and Genetics, National Institute of Diabetes, Digestive and Kidney Diseases, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

Biochemistry. 1994 Jun 7;33(22):6888-901. doi: 10.1021/bi00188a019.

Abstract

The human synexin (annexin VII) gene occurs as a single copy at chromosome 10q21.1-21.2 and substantially deviates in size and in the location of splice junctions from the other two well-characterized members of the annexin gene family, lipocortin I (annexin I) and calpactin I (annexin II). The synexin gene contains 14 exons, including an alternatively spliced cassette exon, and spans approximately 34 kb of DNA. Only five of the fourteen splice junctions are conserved compared to other annexins, and the differences are particularly pronounced in the exons that encode the C-terminal third and fourth conserved repeats in the gene product. Although parallels between exons and protein domains were not apparent, we did observe clustering of splice junctions corresponding to either the unique N-terminal domain or the conserved C-terminal tetrad repeat domain, which is common to all annexins. Furthermore, a complete analysis of the 5' flanking region of the annexin VII gene revealed an entirely different set of cis-acting and enhancer elements compared to other annexin genes. We conclude that the annexin VII gene may have arisen by a divergence from the evolutionary pathway taken by both annexins I and II.

摘要

人联连蛋白(膜联蛋白VII)基因在染色体10q21.1 - 21.2处作为单拷贝存在,在大小和剪接连接点位置上与膜联蛋白基因家族的其他两个特征明确的成员,即脂皮质素I(膜联蛋白I)和钙结合蛋白I(膜联蛋白II)有很大差异。联连蛋白基因包含14个外显子,包括一个可变剪接的盒式外显子,跨越约34kb的DNA。与其他膜联蛋白相比,14个剪接连接点中只有5个是保守的,并且差异在编码基因产物中C端第三个和第四个保守重复序列的外显子中尤为明显。尽管外显子和蛋白质结构域之间的相似性不明显,但我们确实观察到对应于独特N端结构域或保守C端四联体重复结构域的剪接连接点聚集,这是所有膜联蛋白共有的。此外,对膜联蛋白VII基因5'侧翼区域的完整分析揭示了与其他膜联蛋白基因相比完全不同的一组顺式作用元件和增强子元件。我们得出结论,膜联蛋白VII基因可能是通过与膜联蛋白I和II所采用的进化途径发生分歧而产生的。

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