Puca A A, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B
Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.
FEBS Lett. 1998 Mar 20;425(1):7-13. doi: 10.1016/s0014-5793(98)00097-0.
A new member of the dystrobrevin gene family was identified using a bioinformatics approach. Sequence analysis indicates that this gene, named DTN-B, is highly homologous to the rabbit A0, the previously described dystrobrevin (DTN), Torpedo 87 kDa and to the C-terminus of dystrophin. The coiled-coil domain, shown to be the site of interaction between dystrobrevins and dystrophin, is highly conserved. Immunostaining studies indicate that DTN-B and DTN expression is absent in affected muscle fibers from DMD patients and carriers.
采用生物信息学方法鉴定出了肌萎缩蛋白基因家族的一个新成员。序列分析表明,这个名为DTN-B的基因与兔A0、先前描述的肌萎缩蛋白(DTN)、电鳐87 kDa蛋白以及肌营养不良蛋白的C末端高度同源。卷曲螺旋结构域被证明是肌萎缩蛋白与肌营养不良蛋白之间的相互作用位点,该结构域高度保守。免疫染色研究表明,DMD患者及其携带者的受影响肌纤维中不存在DTN-B和DTN表达。