The rd gene defect triggers programmed rod cell death. The Proctor Lecture.
The rd gene defect triggers programmed rod cell death. The Proctor Lecture.
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DOI：
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发表时间：
1994-12
影响因子：
4.4
通讯作者：
R. Lolley
中科院分区：
文献类型：
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作者：
R. Lolley
.Living cells consume energy-rich compounds, funneling, in a controlled series of incremental steps, the stored energy into packets of usable dimension. Restriction of an energy source or malfunctions in the mechanisms that underlie cellular functions can quench the life force of a cell, prompting the cell to die. The life force and the threshold for its extinction are fascinating issues that have motivated my investigations of retinal photoreceptors and their death as a consequence of inherited disease. My research has focused mainly on the inherited retinal degenerative disorders of rrfmice and rcdl Irish setter dogs. Accordingly, selected aspects of these investigations will be the dominate theme of this review. It was not always the case that I had an interest in vision research because, having been trained as a neurochemist, I came by back roads to the eye. The publications of three individuals were particularly important to my future commitment to vision research. Searching for an inherited disease of the central nervous system that appeared suitable for biochemical analysis, I was drawn to the inherited retinal degeneration (rd) of mice by the work of Richard Sidman. He published that the gene for rd was located on chromosome 5 of the mouse and that the rod photoreceptor population was depleted rapidly by cell death in early postnatal life. Years earlier, Claude Keeler had identified a similar disorder, which was named rodless. Having become lost for investigation, it was considered a genetic disease separate from rd. With improvement in techniques for genetic analysis, it has now been shown by Pittler et al that rodless and rd are the identical genetic defect. Warner K. Noell investigated the retina for two decades, seeking a unifying theory of photoreceptor cell death in a variety of lightor drug-induced condi-
