Nudel U, Robzyk K, Yaffe D
Department of Cell Biology, Weizmann Institute of Science, Rehovot, Israel.
Nature. 1988 Feb 18;331(6157):635-8. doi: 10.1038/331635a0.
Duchenne muscular dystrophy (DMD), a sex-linked degenerative disorder of the muscle, is one of the most common lethal genetic diseases in man. It affects about one male in 3,500, with an estimated one-third of cases being caused by new mutations. A less severe disease, Becker's muscular dystrophy (BMD), maps to the same chromosomal locus and is most probably an allelic form of DMD. Both diseases are sometimes associated with various degrees of mental retardation; the molecular basis of these phenotypes is unknown (for review, see ref. 1). The giant DMD gene spans approximately 2,000 kilobases (kb) (0.05% of the human genome) and encodes a 14-kb mRNA. The tissue-specificity of its expression has not been precisely determined. Monaco et al., using Northern blots, reported expression of the gene in human fetal skeletal muscle and small intestine but not in human fetal brain, or in human cultured myoblasts and transformed B and T cells. More recently, expression was detected in mouse skeletal and cardiac muscle, but not in mouse brain. Here we show, using a ribonuclease protection assay, that the DMD gene is developmentally regulated in rat and mouse myogenic cell cultures, and that it is expressed in rat and mouse striated muscle, in mouse smooth muscle and in rat, mouse and rabbit brain. We could not detect transcripts in other non-muscle tissues.
杜兴氏肌肉营养不良症（DMD）是一种与性别相关的肌肉退行性疾病，是人类最常见的致命性遗传疾病之一。每3500名男性中约有1人受其影响，估计其中三分之一的病例是由新的突变引起的。一种症状较轻的疾病，贝克尔氏肌肉营养不良症（BMD），定位于相同的染色体位点，很可能是DMD的等位基因形式。这两种疾病有时都与不同程度的智力迟钝有关；这些表型的分子基础尚不清楚（综述见参考文献1）。巨大的DMD基因跨度约为2000千碱基（kb）（占人类基因组的0.05%），编码一个14 kb的mRNA。其表达的组织特异性尚未精确确定。莫纳科等人利用Northern印迹法报告该基因在人类胎儿骨骼肌和小肠中表达，但在人类胎儿脑、人类培养的成肌细胞以及转化的B细胞和T细胞中不表达。最近，在小鼠骨骼肌和心肌中检测到了该基因的表达，但在小鼠脑中未检测到。在这里，我们使用核糖核酸酶保护试验表明，DMD基因在大鼠和小鼠的成肌细胞培养物中受到发育调控，并且在大鼠和小鼠的横纹肌、小鼠的平滑肌以及大鼠、小鼠和兔子的脑中表达。我们在其他非肌肉组织中未检测到转录本。
