Love D R, Morris G E, Ellis J M, Fairbrother U, Marsden R F, Bloomfield J F, Edwards Y H, Slater C P, Parry D J, Davies K E
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
Proc Natl Acad Sci U S A. 1991 Apr 15;88(8):3243-7. doi: 10.1073/pnas.88.8.3243.
We have previously reported a dystrophin-related locus (DMDL for Duchenne muscular dystrophy-like) on human chromosome 6 that maps close to the dy mutation on mouse chromosome 10. Here we show that this gene is expressed in a wide range of tissues at varying levels. The transcript is particularly abundant in several human fetal tissues, including heart, placenta, and intestine. Studies with antisera raised against a DMDL fusion protein identify a 400,000 Mr protein in all mouse tissues tested, including those of mdx and dy mice. Unlike the dystrophin gene, the DMDL gene transcript is not differentially spliced at the 3' end in either fetal muscle or brain.
我们先前报道过人类6号染色体上一个与肌营养不良蛋白相关的基因座(类杜氏肌营养不良症基因座,简称DMDL),它定位在与小鼠10号染色体上dy突变相近的位置。在此我们表明,该基因在多种组织中均有表达,但其表达水平各不相同。该转录本在几种人类胎儿组织中尤为丰富,包括心脏、胎盘和肠道。用针对DMDL融合蛋白产生的抗血清进行研究,在所有测试的小鼠组织中均鉴定出一种分子量为400,000的蛋白质,包括mdx和dy小鼠的组织。与肌营养不良蛋白基因不同,DMDL基因转录本在胎儿肌肉或大脑的3'端均未发生差异剪接。