Foxc1 Gene Null Mutation Causes Ectopic Budding and Kidney Hypoplasia but Not Dysplasia
Foxc1 Gene Null Mutation Causes Ectopic Budding and Kidney Hypoplasia but Not Dysplasia
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DOI：
10.1159/000351291
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发表时间：
2013-01-01
影响因子：
2.7
通讯作者：
Motojima, Masaru
中科院分区：
文献类型：
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作者：
Komaki, Fumiyo;Miyazaki, Yoichi;Motojima, Masaru
背景：携带空突变Foxc 1基因的小鼠经常发展出异常的双重收集系统。这些小鼠提供了一个理想的机会，以指定的作用，异位出芽的先天性异常的肾脏和泌尿道的发展。方法：收集Foxc 1（ch/ch）突变体在几个胚胎阶段和出生时的组织标本。采用组织学、原位杂交和免疫组织化学方法对上、下极肾进行定性和定量检测。结果如下：新生Foxc 1（ch/ch）小鼠的上极肾脏发育不良的显着更多，含有显着较少的肾小球比他们的下极同行。在胚胎第14.5天，即第一次尿液形成之前的阶段，上极肾已经小于下极肾。无论是组织学还是肾脏标志物的免疫染色显示，在新生Foxc 1（ch/ch）小鼠的肾脏发育不良的区域。值得注意的是，Foxc 1的表达仅限于成熟的足细胞，并且在肾发生区的肾单位发育的任何中间结构中都检测不到。结论：单纯的异位芽殖只导致肾脏发育不良，而不导致发育不良。发育中的肾脏发育异常涉及后肾内功能超出初始萌芽阶段的基因。版权所有（c）2013 S. Karger AG，巴塞尔
Background: Mice carrying the null-mutated Foxc1 gene frequently develop an anomalous double collecting system. These mice provide an ideal opportunity to specify the role of ectopic budding in the development of congenital anomalies of the kidney and urinary tract. Methods: Tissue specimens were collected from Foxc1(ch/ch) mutants at several embryonic stages and at birth. The upper and lower pole kidneys were qualitatively and quantitatively examined by histology, in situ hybridization and immunohistochemistry. Results: Upper pole kidneys of newborn Foxc1(ch/ch) mice were significantly more hypoplastic and contained significantly fewer glomeruli than their lower pole counterparts. On embryonic day 14.5, the stage immediately before the formation of the first urine, the upper pole kidney was already smaller than the lower pole kidney. Neither histology nor immunostaining for kidney markers showed dysplastic regions in either kidney of newborn Foxc1(ch/ch) mice. Of note, expression of Foxc1 was restricted to maturing podocytes and was not detectable in any intermediate structure of nephron development in the nephrogenic zone. Conclusion: Ectopic budding alone results only in kidney hypoplasia but not dysplasia. The development of dysplasticity in the maturing kidney involves gene(s) that function beyond the initial budding stage within the metanephros. Copyright (c) 2013 S. Karger AG, Basel