A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice
A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice
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DOI：
10.1172/jci119593
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发表时间：
1997-08-15
影响因子：
15.9
通讯作者：
Tokuhisa, T
中科院分区：
文献类型：
--
作者：
Hatano, M;Aoki, T;Tokuhisa, T
Ncx/Hox11L.1基因是Hox 11同源盒基因家族的成员，主要在神经嵴来源的组织中表达。为了阐明Ncx/Hox11L.1的作用，已经通过同源重组在胚胎干细胞中使该基因失活。纯合突变小鼠存活。这些小鼠在3-5周龄时发生具有肠神经节的巨结肠。神经节组织化学分析显示巨结肠狭窄段肠神经元神经支配增强。这些神经元细胞中的一些在后期发生变性和神经元细胞死亡。我们认为Ncx/Hox11L.1是维持肠神经系统正常功能所必需的。这些突变小鼠可用于阐明人类神经元肠发育不良的新发病机制。
The Ncx/Hox11L.1 gene, a member of the Hox11 homeobox gene family, is mainly expressed in neural crest-derived tissues. To elucidate the role of Ncx/Hox11L.1, the gene has been inactivated in embryonic stem cells by homologous recombination. The homozygous mutant mice were viable. These mice developed megacolon with enteric ganglia by age 3-5 wk. Histochemical analysis of the ganglia revealed that the enteric neurons hyperinnervated in the narrow segment of megacolon. Some of these neuronal cells degenerated and neuronal cell death occurred in later stages. We propose that Ncx/Hox11L.1 is required for maintenance of proper functions of the enteric nervous system. These mutant mice can be used to elucidate a novel pathogenesis for human neuronal intestinal dysplasia.