MITF等位基因突变及其对眼发育的影响
首发时间:2018-05-15
摘要:小眼畸形相关转录因子(microphthalmia-associated transcription factor,MITF)是一个在视网膜色素上皮细胞(RPE)的发育分化和功能发挥中起重要作用的转录因子。MITF基因突变可导致患者呈现小眼畸形,色素缺失和视网膜病变等病理特征。研究表明MITF在RPE细胞的增殖,生长因子表达,调控RPE细胞参与视循环功能等诸多重要的生理功能。经过国内外同行几十年的研究,现已有几十种MITF不同等位基因突变体的小鼠被报道,这些小鼠呈现不同程度的色素缺失和眼发育异常。鉴于其重要性,本文就MITF不同等位基因突变对眼正常发育的影响相关领域的研究进展进行一个简单的概述
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MITF allelic mutants and its functional roles in eye development
Abstract:Microphthalmia-associated transcription factor (MITF) is a transcription factor that plays important roles in the development and differentiation and function of retinal pigment epithelial cells (RPE). Mutations in the MITF gene can cause pathological features such as microphthalmia, pigment deficiency and retinal degeneration. Current researches showed that MITF plays important roles in regulating RPE cell regulation, the expression of growth factors, and the visual cycle functions in RPE cells. As decades of research on MITF, dozens of MITF allelic mutant mice have been reported. These mice have different degrees of pigment loss and abnormal eye development. . As its important, the functional roles of MITF in RPE cells have been studied. In this paper, I will review the latest progress in the researches of MITF allelic mutations on the normal development of the eye.
Keywords: Ophthalmology RPE MITF Allelic mutation
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