GENETIC INTERACTION IN THE RETINAL DEGENERATION OF MICE
GENETIC INTERACTION IN THE RETINAL DEGENERATION OF MICE
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DOI：
10.1016/s0014-4835(81)80070-x
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发表时间：
1981-01-01
影响因子：
3.4
通讯作者：
HAWKINS, RK
中科院分区：
文献类型：
--
作者：
SANYAL, S;HAWKINS, RK
在rd（视网膜变性）基因纯合的小鼠视网膜中，视觉细胞从apprx开始迅速丧失。出生后10天，在21天龄时，外核层减少为单行。在rds（视网膜变性缓慢）基因纯合子小鼠中，视网膜不能发育受体外节，缺乏视紫红质，从出生后2周开始，视觉细胞非常缓慢地丧失，导致外核层进行性减少。为了检测视紫红质缺乏对rd基因引起的退化的影响，通过适当的育种产生rd和rds基因的纯合子小鼠。在双纯合突变体中，视细胞仍然缺乏受体外节，但超微结构的变化，内节和视细胞的死亡，所示的外观的固缩核，开始在同一时间在rd基因型。双纯合子的退化速度明显减慢，并且在14、21和28天时，外核层的厚度始终比rd小鼠的视网膜厚。在21天的rd视网膜中可见一排外核，在2个月的双纯合子中可见。这些研究结果的相关性有关的治疗使用维生素A在视网膜色素变性进行了讨论。
In the retina of mice, homozygous for the rd (retinal degeneration) gene, rapid loss of visual cells starting from .apprx. 10 days after birth reduced the outer nuclear layer to a single row at the age of 21 days. In the mouse, homozygous for the rds (retinal degeneration slow) gene, the retina failed to develop the receptor outer segments and lacked rhodopsin, and a very slow loss of visual cells, starting from 2 wk after birth, resulted in progressive reduction of the outer nuclear layer. To examine the influence of rhodopsin absence on the degeneration caused by the rd gene, mice homozygous for both the rd and the rds genes were produced by appropriate breeding. In the double homozygous mutants, the visual cells remained lacking in receptor outer segments, but ultrastructural changes in the inner segments and visual cell death, as indicated by the appearance of pycnotic nuclei, started at the same time as in the rd genotype. The rate of degeneration was considerably slowed down in the double homozygotes and the thickness of the outer nuclear layer, at 14, 21 and 28 days, remained consistently thicker than in the retina of rd mice. A single row of outer nuclei, as seen in the rd retina at 21 days, was seen in the double homozygotes at 2 mo. The relevance of these findings in relation to the therapeutic use of vitamin A in retinitis pigmentosa is discussed.