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垂体和神经内分泌肿瘤中DLK1变异体的鉴定

Identification of DLK1 variants in pituitary- and neuroendocrine tumors.

作者信息

Altenberger T, Bilban M, Auer M, Knosp E, Wolfsberger S, Gartner W, Mineva I, Zielinski C, Wagner L, Luger A

机构信息

Vienna Medical University, Department of Internal Medicine III, Vienna, Austria.

出版信息

Biochem Biophys Res Commun. 2006 Feb 17;340(3):995-1005. doi: 10.1016/j.bbrc.2005.12.094. Epub 2005 Dec 27.

Abstract

In a gene chip analysis of common pituitary tumor types, one of the genes with the most impressive tissue-specific expression regulation was delta-like 1 (DLK1), which was strongly expressed in GH-secreting (GH-S) pituitary tumors. In addition to pituitary adenomas, various endocrine tumors were subjected to real-time-quantitative PCR revealing high expression of DLK1 in normal pituitary tissue, in GH-S-, in one prolactin-secreting pituitary adenoma and in pheochromocytomas. Additionally, three DLK1 gene-derived subvariants were identified. The first, lacking 204 bp--coding for epidermal growth factor-like domain 6 and parts of the juxtamembrane region--was named Secredeltin. In the other two splice variants (named Brevideltin and Brevideltinin), a stop codon is introduced due to a frame-shift, leading to truncated proteins of 204 and 213 aas, respectively.

摘要

在一项针对常见垂体瘤类型的基因芯片分析中,组织特异性表达调控最显著的基因之一是δ样蛋白1(DLK1),它在分泌生长激素(GH-S)的垂体瘤中强烈表达。除垂体腺瘤外,还对各种内分泌肿瘤进行了实时定量PCR检测,结果显示DLK1在正常垂体组织、GH-S垂体瘤、一例分泌催乳素的垂体腺瘤以及嗜铬细胞瘤中均高表达。此外,还鉴定出了3种DLK1基因衍生的亚型。第一种缺失204 bp(编码表皮生长因子样结构域6和部分近膜区域),被命名为Secredeltin。在另外两种剪接变体(命名为Brevideltin和Brevideltinin)中,由于移码引入了一个终止密码子,分别导致产生了由204和213个氨基酸组成的截短蛋白。

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