Pacione Laura R, Szego Michael J, Ikeda Sakae, Nishina Patsy M, McInnes Roderick R
Programs in Genetics and Developmental Biology, The Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
Annu Rev Neurosci. 2003;26:657-700. doi: 10.1146/annurev.neuro.26.041002.131416.
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.
已鉴定出80多个与人类光感受器退化相关的基因。现在必须将注意力转向确定导致光感受器死亡的机制，这种死亡发生在细胞出生后的数年至数十年。因此，本综述重点关注能深入了解此类机制的主题，包括光感受器死亡的单次打击或恒定风险模型；光感受器退化的拓扑模式；仅与光感受器退化相关的普遍表达的剪接因子基因突变；视网膜色素上皮疾病；修饰基因；以及视网膜的全基因表达分析，这将极大地增进我们对因突变而发生的下游事件的理解。
