Shirasawa S, Yunker A M, Roth K A, Brown G A, Horning S, Korsmeyer S J
Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Nat Med. 1997 Jun;3(6):646-50. doi: 10.1038/nm0697-646.
The isolated homeobox gene Enx (Hox11L1) is expressed in enteric neurons innervating distal ileum, and proximal and distal colon. Enx-deficient mice develop megacolon with massive distension of the proximal colon. The number of myenteric ganglia, total neurons per ganglion, and NADPH diaphorase presumptive inhibitory neurons per ganglion are increased in the proximal and distal colon, but decreased in the distal ileum of all Enx-/- mice. Enx-/- mice provide a model for human neuronal intestinal dysplasia (NID), in which myenteric neuronal hyperplasia and megacolon are seen. These results suggest that Enx is required for the proper positional specification and differentiative cell fate of enteric neurons.
分离出的同源框基因Enx（Hox11L1）在支配回肠末端、近端结肠和远端结肠的肠神经元中表达。Enx基因缺陷型小鼠会出现巨结肠，近端结肠出现大量扩张。在所有Enx基因敲除小鼠的近端和远端结肠中，肌间神经节数量、每个神经节的总神经元数量以及每个神经节中NADPH黄递酶推定抑制性神经元数量均增加，但在回肠末端减少。Enx基因敲除小鼠为人类神经元性肠发育异常（NID）提供了一个模型，在该模型中可见肌间神经元增生和巨结肠。这些结果表明，Enx是肠神经元正确的位置特化和分化细胞命运所必需的。
