Duncan M K, Kos L, Jenkins N A, Gilbert D J, Copeland N G, Tomarev S I
National Eye Institute, Laboratory of Molecular and Developmental Biology, Building 6, Room 203, 6 Center Drive, MSC 2730, Bethesda, Maryland 20892, USA.
Mamm Genome. 1997 Jul;8(7):479-85. doi: 10.1007/s003359900480.
Genes related to the Drosophila eyes absent gene were identified in vertebrates (mouse and human), mollusks (squid), and nematodes (C. elegans). Proteins encoded by these genes consist of conserved C-terminal and variable N-terminal domains. In the conserved 271-amino acid C-terminal region, Drosophila and vertebrate proteins are 65-67% identical. A vertebrate homolog of eyes absent, designated Eya2, was mapped to Chromosome (Chr) 2 in the mouse and to Chr 20q13.1 in human. Eya2 shows a dynamic pattern of expression during development. In the mouse, expression of Eya2 was first detected in 8.5-day embryos in the region of head ectoderm fated to become the forebrain. At later stages of development, Eya2 is expressed in the olfactory placode and in a variety of neural crest derivatives. In the eye, expression of Eya2 was first detected after formation of the lens vesicle. At day 17.5, the highest level of Eya2 mRNA was observed in primary lens fibers. Low levels of Eya2 expression was detected in retina, sclera, and cornea. By postnatal day 10, Eya2 was expressed in secondary lens fibers, cornea, and retina. Although Eya2 is expressed relatively late in eye development, it belongs to the growing list of factors that may be essential for eye development across metazoan phyla. Like members of the Pax-6 gene family, eyes absent gene family members were probably first involved in functions not related to vision, with recruitment for visual system formation and function occurring later.
在脊椎动物（小鼠和人类）、软体动物（鱿鱼）和线虫（秀丽隐杆线虫）中鉴定出了与果蝇无眼基因相关的基因。这些基因编码的蛋白质由保守的C端结构域和可变的N端结构域组成。在保守的271个氨基酸的C端区域，果蝇和脊椎动物的蛋白质有65%-67%的同源性。无眼基因的一个脊椎动物同源物，命名为Eya2，在小鼠中定位于2号染色体，在人类中定位于20号染色体长臂13.1区。Eya2在发育过程中表现出动态的表达模式。在小鼠中，Eya2的表达首先在8.5天胚胎中注定要成为前脑的头部外胚层区域被检测到。在发育的后期阶段，Eya2在嗅基板和各种神经嵴衍生物中表达。在眼睛中，Eya2的表达在晶状体泡形成后首次被检测到。在17.5天时，在初级晶状体纤维中观察到Eya2 mRNA的最高水平。在视网膜、巩膜和角膜中检测到低水平的Eya2表达。到出生后第10天，Eya2在次级晶状体纤维、角膜和视网膜中表达。尽管Eya2在眼睛发育中表达相对较晚，但它属于可能对后生动物门的眼睛发育至关重要的不断增加的因子列表。像Pax-6基因家族的成员一样，无眼基因家族成员可能最初参与与视觉无关的功能，后来才被招募到视觉系统的形成和功能中。
