Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi Y K, Tsukahara T, Arahata K
Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
Nat Genet. 1996 Mar;12(3):254-9. doi: 10.1038/ng0396-254.
Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. To elucidate the subcellular localization of emerin, we raised two antisera against synthetic peptide fragments predicted from emerin cDNA. Using both antisera, we found positive nuclear membrane staining in skeletal, cardiac and smooth muscles in the normal controls and in patients with neuromuscular diseases other than EDMD. In contrast, a deficiency in immunofluorescent staining of skeletal and cardiac muscle from EDMD patients was observed. A 34 kD protein is immunoreactive with the antisera--the protein is equivalent to that predicted for emerin. Together, our findings suggest the specific deficiency of emerin in the nuclear membrane of muscle cells in patients with EDMD.
在患有X连锁型埃默里-德赖富斯肌营养不良症（EDMD）的患者中发现了位于Xq28位点的STA基因突变。该基因编码一种迄今为止未知的名为“emerin”的蛋白质。为了阐明emerin的亚细胞定位，我们针对从emerin cDNA预测的合成肽片段制备了两种抗血清。使用这两种抗血清，我们在正常对照以及患有除EDMD之外的神经肌肉疾病的患者的骨骼肌、心肌和平滑肌中发现了阳性核膜染色。相比之下，观察到EDMD患者的骨骼肌和心肌免疫荧光染色缺乏。一种34 kD的蛋白质与抗血清发生免疫反应——该蛋白质与预测的emerin相同。总之，我们的研究结果表明EDMD患者肌肉细胞核膜中emerin存在特异性缺乏。
