Eyes absent: A gene family found in several metazoan phyla
Eyes absent: A gene family found in several metazoan phyla
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DOI：
10.1007/s003359900480
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发表时间：
1997-07-01
期刊：
影响因子：
2.5
通讯作者：
Tomarev, SI
中科院分区：
文献类型：
--
作者：
Duncan, MK;Kos, L;Tomarev, SI
在脊椎动物(鼠和人)、软体动物(鱿鱼)和线虫(线虫)中发现了与果蝇眼睛缺失基因相关的基因。这些基因编码的蛋白质由保守的C-末端和可变的N-末端结构域组成。在保守的271个氨基酸的C末端区域，果蝇和脊椎动物的蛋白质有65%-67%的同源性。一个没有眼睛的脊椎动物同源物，被命名为Eya2，被定位到小鼠的染色体(Chr)2和人类的Chr 20q13.1。Eya2在发育过程中表现出动态的表达模式。在小鼠中，在8.5天的胚胎中首次检测到Eya2的表达，该胚胎位于注定要成为前脑的头部外胚层区域。在发育的后期，Eya2在嗅觉平台和各种神经脊衍生物中表达。在眼内，在晶状体囊泡形成后首次检测到Eya2的表达。17.5d时，原代晶状体纤维中Eya2的表达水平最高。Eya2在视网膜、巩膜和角膜中的表达水平较低。出生后第10天，Eya2在次级晶状体纤维、角膜和视网膜中表达。虽然Eya2在眼睛发育中的表达相对较晚，但它属于后生动物门中可能对眼睛发育至关重要的越来越多的因素之一。与Pax-6基因家族的成员一样，眼睛缺失基因家族成员可能首先参与了与视觉无关的功能，后来才招募到视觉系统的形成和功能。
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.