论文部分内容阅读
目的 Opitz综合征(OS)是一种影响中线上结构器官发育的严重遗传病。一部分X连锁的OS病人被证实是由MID1基因突变所致的,其同源物MID2被推断为OS的另一致病基因或修饰基因。MID1和MID2均编码RBCC家族蛋白质,两者分子功能的发挥均需要有正确的亚细胞定位和形成蛋白复合体的能力,而其实现则依赖于Coiled-coil(CC)结构域。本文为了研究MID2CC结构域的功能,检测了其形成同源或异源二聚体的能力,这有助于阐明MID2在OS病理发生中扮演的角色。方法利用酵母双杂交系统检测MID2CC结构域形成二聚体的能力及特点。结果 MID2CC结构域能与自身或完整的MID1、MID2蛋白质形成二聚体。结沦本文首次证实了MID2CC结构域是单独的、明确起二聚化作用的结构域,为确定MID2是OS的相关基因提供了依据。
Purpose Opitz syndrome (OS) is a serious genetic disorder that affects the development of structural organs in the midline. A portion of the X-linked OS patients were confirmed to have been caused by mutations in the MID1 gene, and its homolog, MID2, was inferred as another pathogenic or modified gene for OS. Both MID1 and MID2 encode the RBCC family of proteins, both of which require the proper subcellular localization and formation of protein complexes, and their reliance on the Coiled-coil (CC) domain is essential for both molecular functions. In order to study the function of MID2CC domain, we examined the ability of MID2CC to form homodimers or heterodimers, which helps to elucidate the role of MID2 in OS pathology. Methods The yeast two-hybrid system was used to detect the ability and characteristics of dimerization of MID2CC domain. As a result, the MID2CC domain can dimerize with its own or intact MID1, MID2 proteins. Conclusion For the first time confirmed MID2CC domain is a separate, clear dimerization of the domain, to determine the MID2 is OS-related genes provide a basis.