Kumaramanickavel G, Denton M J, Legge M
Department of Biochemistry, University of Otago, Dunedin, NewZealand.
Indian J Ophthalmol. 2015 Apr;63(4):353-4. doi: 10.4103/0301-4738.158093.
Despite the intensity of the search for genes causing inherited retinal degenerations over the past 3 decades, of the approximately 200 disease genes identified to date, all appear to be ordinary housekeeping genes specifying proteins playing basic structural and functional roles in the mature photoreceptor cells. No genes or genetic elements have been identified which can be construed as having a specific morphogenic role, directing the development of the cytoarchitecture of any particular retinal cell. The evidence suggests that the cytoarchitecture of the retinal photoreceptors, although enormously complex, arises from the self-organization of the cells constituents without any regulation or direction from an external genetic blueprint.
尽管在过去30年里人们一直在高强度地寻找导致遗传性视网膜变性的基因,但在迄今已确定的约200个疾病基因中,所有这些基因似乎都是普通的管家基因,它们所编码的蛋白质在成熟的光感受器细胞中发挥着基本的结构和功能作用。尚未发现任何基因或遗传元件可被认为具有特定的形态发生作用,即指导任何特定视网膜细胞的细胞结构发育。有证据表明,视网膜光感受器的细胞结构虽然极其复杂,但却是由细胞成分的自组织形成的,没有任何外部遗传蓝图的调控或指导。