Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse.

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. IMAGES:

我们此前曾报道人类6号染色体上存在一个抗肌萎缩蛋白（dystrophin）相关位点，其全称为杜氏肌营养不良样位点（Duchenne muscular dystrophy-like，简称DMDL），该位点在小鼠10号染色体上的位置紧邻dy突变位点。本研究证实，该基因可在多种组织中表达，且表达水平存在差异。其转录本在心脏、胎盘、肠道等多种人类胎儿组织中丰度尤为显著。针对DMDL融合蛋白制备的抗血清实验显示，在所有检测的小鼠组织（包括mdx小鼠与dy小鼠的组织）中均可检测到一种相对分子质量为400,000的蛋白质。与抗肌萎缩蛋白基因不同，DMDL基因的转录本在胎儿肌肉和脑组织中均未出现3'端可变剪接现象。图片：