Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

被引:126
作者
Pacione, LR [1 ]
Szego, MJ
Ikeda, S
Nishina, PM
McInnes, RR
机构
[1] Hosp Sick Children, Res Inst, Genet Program, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Res Inst, Program Dev Biol, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5S 1A1, Canada
[4] Univ Toronto, Dept Pediat, Toronto, ON M5S 1A1, Canada
[5] Jackson Lab, Bar Harbor, ME 04609 USA
关键词
retinal degeneration; death kinetics; modifier genes; pre-mRNA splicing; gene expression analysis;
D O I
10.1146/annurev.neuro.26.041002.131416
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:657 / 700
页数:46
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