Torres M, Gómez-Pardo E, Gruss P
Abteilung Molekulare Zellbiologie, Max-Planck-Institut für Biophysikalische Chemie, Göttingen, Germany.
Development. 1996 Nov;122(11):3381-91. doi: 10.1242/dev.122.11.3381.
During gestation, the paired box-containing gene Pax2 is expressed in the mid-hindbrain area, developing eye and inner ear. We generated Pax2 null mutant mice, which show the requirement of Pax2 for the establishment of axonal pathways along the optic stalks and ventral diencephalon. In mutant brains, the optic tracts remain totally ipsilateral due to agenesis of the optic chiasma. Furthermore, Pax2 mutants show extension of the pigmented retina into the optic stalks and failure of the optic fissure to close resulting in coloboma. In the inner ear, Pax2 mutants show agenesis of the cochlea and the spiral ganglion, i.e., the parts of the organ responsible for auditory function and in whose primordium Pax2 is expressed. Our results identify Pax2 as a major regulator of patterning during organogenesis of the eye and inner ear and indicate its function in morphogenetic events required for closure of the optic fissure and neural tube.
在胚胎期，含成对结构域的基因Pax2在中后脑区域、发育中的眼睛和内耳中表达。我们培育出了Pax2基因敲除突变小鼠，这些小鼠显示出Pax2对于沿视柄和腹侧间脑建立轴突通路的必要性。在突变体大脑中，由于视交叉发育不全，视束完全保持同侧。此外，Pax2突变体显示色素性视网膜延伸至视柄，视裂未能闭合，导致形成视网膜缺损。在内耳中，Pax2突变体显示耳蜗和螺旋神经节发育不全，即负责听觉功能且在其原基中表达Pax2的器官部分。我们的结果确定Pax2为眼睛和内耳器官发生过程中模式形成的主要调节因子，并表明其在视裂和神经管闭合所需的形态发生事件中的作用。
