Krawczyński Maciej R
Pracowni Poradnictwa Genetycznego w Chorobach Narzadu Wzroku Katedry, Zakładu Genetyki Medycznej Akademii Medycznej w Poznaniu.
Klin Oczna. 2003;105(3-4):207-10.
The course of oculogenesis is genetically controlled by genes, that are selectively expressed in the developing eye. Many of them, first recognized in studies on model animals, such as fruit fly (Drosophila melanogaster) proved, that they play similar roles in humans. The crucial role in cascade of genetic control of oculogenesis plays a system of genes PAX6-EYA1/SIX3-DACH1. In this work there are described also other genes, that form a network of interactions and regulations, such as: BMP4, BMP7, OPTX2, SOX1, PAX2, PITX2, PAX3, CHX10 and other genes. Describing function of each gene, author presented simultaneously all known congenital defects and syndromes, that are caused by mutations of above mentioned genes, such as: aniridia, anophthalmia, Peters anomaly and others.
眼发育过程由基因进行遗传控制，这些基因在发育中的眼睛中选择性表达。其中许多基因最初是在对果蝇等模式动物的研究中被识别出来的，事实证明它们在人类中发挥着类似的作用。PAX6-EYA1/SIX3-DACH1基因系统在眼发育的遗传控制级联中起着关键作用。在这项工作中，还描述了其他形成相互作用和调控网络的基因，如：BMP4、BMP7、OPTX2、SOX1、PAX2、PITX2、PAX3、CHX10和其他基因。在描述每个基因的功能时，作者同时介绍了所有已知的由上述基因突变引起的先天性缺陷和综合征，如：无虹膜、无眼症、彼得斯异常等。
