Usher综合征
色素性视网膜炎
视网膜变性
斑马鱼
细胞生物学
生物
突变体
仓鼠
表型
遗传学
基因
分子生物学
作者
Juan Zou,Rong Li,Zhongde Wang,Jun Yang
标识
DOI:10.1007/978-3-030-27378-1_89
摘要
Mutations in USH2A, ADGRV1, and WHRN genes cause Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). The proteins encoded by these genes form the periciliary membrane complex (PMC) in photoreceptors. Unlike patients, who show retinal degeneration in their second decade of life, mice carrying USH2 mutations have very-late-onset retinal degeneration, although the PMC is disrupted. A similar weak retinal degeneration phenotype was also reported in ush2a mutant zebrafish. The lack of appropriate USH2 animal models hinders our understanding on PMC function in photoreceptors and retinal pathogenesis caused by USH2 mutations. In this study, we examined the molecular composition of the PMC and the morphology of the PMC and its surrounding subcellular structure in Syrian hamster photoreceptors. We demonstrate that the PMC and its neighboring structure in hamsters are similar to those in mice. Therefore, the Syrian hamster may not offer advantages over the mouse as an animal model for USH2 pathogenic studies.
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