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首页> 外文期刊>Molecular and Cellular Biology >Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype
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Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype

机译：缺少巨型原钙粘蛋白mFAT1的小鼠表现出肾缝交界处异常和部分渗透性的Cyclopia和无眼表型。

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While roles in adhesion and morphogenesis have been documented for classical cadherins, the nonclassical cadherins are much less well understood. Here we have examined the functions of the giant protocadherin FAT by generating a transgenic mouse lacking mFAT1. These mice exhibit perinatal lethality, most probably caused by loss of the renal glomerular slit junctions and fusion of glomerular epithelial cell processes (podocytes). In addition, some mFAT1?/? mice show defects in forebrain development (holoprosencephaly) and failure of eye development (anophthalmia). In contrast to Drosophila, where FAT acts as a tumor suppressor gene, we found no evidence for abnormalities of proliferation in two tissues (skin and central nervous system [CNS]) containing stem and precursor cell populations and in which FAT is expressed strongly. Our results confirm a necessary role for FAT1 in the modified adhesion junctions of the renal glomerular epithelial cell and reveal hitherto unsuspected roles for FAT1 in CNS development.
机译：虽然经典钙粘蛋白在黏附和形态发生中的作用已有文献记载，但非经典钙粘蛋白的了解却少得多。在这里，我们通过生成缺少mFAT1的转基因小鼠来检查巨型原钙粘蛋白FAT的功能。这些小鼠表现出围生期致死性，很可能是由于肾小球狭缝连接的丧失和肾小球上皮细胞过程（足细胞）的融合引起的。此外，某些mFAT1 ？/？小鼠的前脑发育缺陷（全脑性）和眼发育衰竭（失语）。与果蝇（FAT）作为抑癌基因的果蝇相反，我们没有发现证据表明存在两个包含干细胞和前体细胞群的组织（皮肤和中枢神经系统[CNS]）的增殖异常。哪个FAT表达强烈。我们的结果证实了FAT1在肾小球上皮细胞的修饰粘附连接中的必要作用，并揭示了FAT1在中枢神经系统发育中迄今未曾怀疑的作用。

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