关键词: ADAR1 apoptosis cell polarity dyschromatosis symmetrica hereditaria zebrafish

Mesh : Animals Humans Adenosine Deaminase / genetics Mutation Pedigree Pigmentation Disorders / congenital RNA-Binding Proteins / genetics Zebrafish / genetics Zebrafish Proteins / genetics

来  源:   DOI:10.1111/exd.15031

Abstract:
The pathogenesis of dyschromatosis symmetrica hereditaria (DSH) has not been well defined. In this study, we sought to investigate the influence of the ADAR1 gene on DSH both in vitro and in vivo. Morpholino knockdown of adar1 in zebrafish produced phenotypes characterized by polarity changes, and abnormal migration and distribution of melanocytes. Differential expression of C-KIT and distinct patterns of apoptosis between hyperpigmented and hypopigmented areas in DSH patient were detected by means of immunohistochemical methods and TUNEL assays, respectively. This study revealed that adar1 knockdown in a zebrafish model resulted in abnormal migration and changes in the cell polarity of melanocytes, and provided novel insight into the mechanism of DSH pathogenesis.
摘要:
对称性遗传性色素沉着症(DSH)的发病机理尚未明确。在这项研究中,我们试图在体外和体内研究ADAR1基因对DSH的影响。斑马鱼产生的表型以极性变化为特征,黑素细胞的迁移和分布异常。通过免疫组织化学方法和TUNEL测定法检测DSH患者色素沉着和色素沉着区之间C-KIT的差异表达和不同的凋亡模式,分别。这项研究表明,斑马鱼模型中的adar1敲低导致黑素细胞的异常迁移和细胞极性的变化,并为DSH发病机制提供了新的见解。
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