Blake D J, Nawrotzki R, Loh N Y, Górecki D C, Davies K E
Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom.
Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):241-6. doi: 10.1073/pnas.95.1.241.
The importance of dystrophin and its associated proteins in normal muscle function is now well established. Many of these proteins are expressed in nonmuscle tissues, particularly the brain. Here we describe the characterization of beta-dystrobrevin, a dystrophin-related protein that is abundantly expressed in brain and other tissues, but is not found in muscle. beta-dystrobrevin is encoded by a 2.5-kb alternatively spliced transcript that is found throughout the brain. In common with dystrophin, beta-dystrobrevin is found in neurons of the cortex and hippocampal formation but is not found in the brain microvasculature. In the brain, beta-dystrobrevin coimmunoprecipitates with the dystrophin isoforms Dp71 and Dp140. These data provide evidence that the composition of the dystrophin-associated protein complex in the brain differs from that in muscle. This finding may be relevant to the cognitive dysfunction affecting many patients with Duchenne muscular dystrophy.
抗肌萎缩蛋白及其相关蛋白在正常肌肉功能中的重要性现已得到充分证实。其中许多蛋白在非肌肉组织中表达,尤其是在大脑中。在此,我们描述了β - 肌萎缩蛋白结合蛋白的特性,它是一种与抗肌萎缩蛋白相关的蛋白,在大脑和其他组织中大量表达,但在肌肉中未发现。β - 肌萎缩蛋白结合蛋白由一个2.5 kb的可变剪接转录本编码,该转录本在整个大脑中都有发现。与抗肌萎缩蛋白一样,β - 肌萎缩蛋白结合蛋白存在于皮质和海马结构的神经元中,但在脑微血管中未发现。在大脑中,β - 肌萎缩蛋白结合蛋白与抗肌萎缩蛋白同工型Dp71和Dp140共同免疫沉淀。这些数据证明大脑中抗肌萎缩蛋白相关蛋白复合物的组成与肌肉中的不同。这一发现可能与影响许多杜氏肌营养不良患者的认知功能障碍有关。