Cronin Carolyn A, Ryan Amy B, Talley Edmund M, Scrable Heidi
Department of Neuroscience, University of Virginia, Charlottesville, Virginia 22908-1392, USA.
J Neurosci. 2003 Dec 17;23(37):11692-7. doi: 10.1523/JNEUROSCI.23-37-11692.2003.
Occulocutaneous albinism is caused by mutations in the gene encoding the enzyme tyrosinase. Individuals with this disorder are predisposed to visual system deficits. We determined the critical period during development when tyrosinase expression is essential for the appropriate pathfinding of ganglion cell axons from the retina to the dorsal lateral geniculate nucleus. We used a line of mice with a Tyrosinase transgene, the expression of which is regulatable with the lac operator-repressor system, to restrict tyrosinase activity to discrete periods of embryogenesis. When tyrosinase was expressed throughout the period of neuroblast divisions that produce the ipsilaterally projecting ganglion cells, axonal projections innervated the same volume of the ipsilateral dorsal lateral geniculate nucleus of the thalamus as in normal mice. If tyrosinase expression ceased before the end of neuroblast divisions, or was not initiated until after they had begun, the degree of ipsilateral innervation was smaller, as in albino mice. Tyrosinase expression was not required during the entire period of pathfinding itself or during final maturation of the retinogeniculate pathway. Thus, tyrosinase appears to set up a signal early in visual system development that determines the pathway taken later by ganglion cell axons.
眼皮肤白化病是由编码酪氨酸酶的基因突变引起的。患有这种疾病的个体易出现视觉系统缺陷。我们确定了发育过程中的关键时期,在此期间酪氨酸酶的表达对于神经节细胞轴突从视网膜到背外侧膝状核的正确路径寻找至关重要。我们使用了一种带有酪氨酸酶转基因的小鼠品系,其表达可通过乳糖操纵子 - 阻遏物系统进行调控,从而将酪氨酸酶活性限制在胚胎发生的特定时期。当酪氨酸酶在产生同侧投射神经节细胞的成神经细胞分裂期间全程表达时,轴突投射支配丘脑同侧背外侧膝状核的体积与正常小鼠相同。如果酪氨酸酶的表达在成神经细胞分裂结束前停止,或者直到分裂开始后才启动,同侧神经支配的程度就会变小,就像白化病小鼠一样。在整个路径寻找过程本身或视网膜 - 膝状体通路的最终成熟过程中,并不需要酪氨酸酶的表达。因此,酪氨酸酶似乎在视觉系统发育早期建立了一个信号,该信号决定了神经节细胞轴突随后所采取的路径。