Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations.
Document Type
Article
Publication Date
2003
Keywords
Biochemistry, Cell-Death, Disease-Models-Animal, Gene-Expression, Human, Linkage-(Genetics), Molecular-Biology, Neurodegenerative-Diseases, Photoreceptors, RNA-Splicing, Retinal-Degeneration, Retinitis-Pigmentosa
First Page
657
Last Page
700
JAX Source
Annu Rev Neurosci 2003; 26:657-700.
Abstract
More than 80 genes associated with human photoreceptor degenerations have been identified. Attention must now turn toward defining the mechanisms that lead to photoreceptor death, which occurs years to decades after the birth of the cells. Consequently, this review focuses on topics that offer insights into such mechanisms, including the one-hit or constant risk model of photoreceptor death; topological patterns of photoreceptor degeneration; mutations in ubiquitously expressed splicing factor genes associated only with photoreceptor degeneration; disorders of the retinal pigment epithelium; modifier genes; and global gene expression analysis of the retina, which will greatly increase our understanding of the downstream events that occur in response to a mutation.
Recommended Citation
Pacione LR,
Szego MJ,
Ikeda S,
Nishina PM,
McInnes RR.
Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu Rev Neurosci 2003; 26:657-700.