Connexin50D47A Decreases Levels of Fiber Cell Connexins and Impairs Lens Fiber Cell Differentiation
Connexin50D47A Decreases Levels of Fiber Cell Connexins and Impairs Lens Fiber Cell Differentiation
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DOI：
10.1167/iovs.13-13188
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发表时间：
2013-11-01
影响因子：
4.4
通讯作者：
Beyer, Eric C.
中科院分区：
文献类型：
--
作者：
Berthoud, Viviana M.;Minogue, Peter J.;Beyer, Eric C.
目的。在几个人类谱系中，天冬氨酸 47 (D47) 取代 Connexin50 (Cx50) 与常染色体显性先天性白内障有关。为了阐明该位置替换引起的晶状体异常，我们研究了携带 Cx50D47A 突变且与人类病理学相似的 No2 小鼠。方法。通过暗视野和免疫荧光显微镜检查不同年龄（新生儿至 4 个月）小鼠的晶状体。使用针对连接蛋白、其他膜蛋白、晶状体蛋白和驻留在不同细胞器中的蛋白质的一抗，通过免疫印迹测定蛋白质水平。结果。杂合子和纯合子 Cx50D47A 小鼠的晶状体均患有白内障，并且比野生型同窝小鼠的晶状体小。与野生型小鼠相比，突变型动物的 Cx50 水平严重降低（
PURPOSE. Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to autosomal dominant congenital cataracts in several human pedigrees. To elucidate the lens abnormalities caused by a substitution at this position, we studied No2 mice, which carry the Cx50D47A mutation and parallel the human pathology.METHODS. Lenses from mice of different ages (neonatal to 4 months) were examined by dark-field and immunofluorescence microscopy. Protein levels were determined by immunoblotting using primary antibodies directed against connexins, other membrane proteins, crystallins, and proteins residing in different organelles.RESULTS. Lenses of both heterozygous and homozygous Cx50D47A mice had cataracts and were smaller than those of wild-type littermates. Levels of Cx50 were severely reduced in mutant animals as compared with those in wild-type mice (