Schmale H, Ivell R, Breindl M, Darmer D, Richter D
EMBO J. 1984 Dec 20;3(13):3289-93. doi: 10.1002/j.1460-2075.1984.tb02291.x.
The vasopressin gene from normal and diabetes insipidus (Brattleboro) rats has been isolated and sequenced. Except for a single deletion of a G residue in region coding for the neurophysin carrier protein the approximately 2300 nucleotides of both genes are identical. Blot analysis of hypothalamic RNA as well as transfection and microinjection experiments indicate that the mutant gene is correctly transcribed and spliced, however the resulting mRNA is not efficiently translated.
已分离并测序了正常大鼠和尿崩症(布拉特洛维)大鼠的血管加压素基因。除了编码神经垂体运载蛋白区域的一个G残基发生单碱基缺失外,两个基因的大约2300个核苷酸是相同的。下丘脑RNA的印迹分析以及转染和显微注射实验表明,突变基因能正确转录和剪接,然而产生的mRNA翻译效率不高。