Hoffer M J, van Eck M M, Petrij F, van der Zee A, de Wit E, Meijer D, Grosveld G, Havekes L M, Hofker M H, Frants R R
MGC-Department of Human Genetics, Leiden University, The Netherlands.
Biochem Biophys Res Commun. 1993 Mar 31;191(3):880-6. doi: 10.1006/bbrc.1993.1299.
The low density lipoprotein (LDL) receptor plays a central role in the cholesterol metabolism. The cDNA sequence of the mouse low density lipoprotein receptor (Ldlr) gene has been determined and shows 76% homology with the human gene. The exon-intron structure has been determined for the 129/J mouse strain. The gene is composed of 18 exons and spans a region of 28 kb. In addition, the promoter regions of the mouse and human genes are homologous. Northern blot analysis revealed an mRNA of approximately 5 kb. The cloning of the Ldlr gene will enhance the usefulness of the mouse for the study of cholesterol metabolism and, in particular, for carrying out gene targeting experiments.
低密度脂蛋白（LDL）受体在胆固醇代谢中起核心作用。小鼠低密度脂蛋白受体（Ldlr）基因的cDNA序列已被确定，与人类基因显示出76%的同源性。已确定了129/J小鼠品系的外显子-内含子结构。该基因由18个外显子组成，跨度为28 kb的区域。此外，小鼠和人类基因的启动子区域是同源的。Northern印迹分析显示有一条约5 kb的mRNA。Ldlr基因的克隆将提高小鼠在胆固醇代谢研究中的实用性，特别是在进行基因靶向实验方面。
