A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms

Francesca Rubboli, Alessandro Bulfone, Silvia Bogni, Anna Marchitiello, Massimo Zollo, Giuseppe Borsani, Andrea Ballabio, Sandro Banfi
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引用次数: 16

Abstract

Comparative analysis of homologous genes in distantly related species provides important insights into the evolution of complex physiological processes. The Drosophila retinal degeneration B (rdgB) gene encodes a protein involved in phototransduction in the fly. We have isolated a human gene, DRES9, and its murine homologue (Dres9), which show a high degree of similarity to the Drosophila rdgB gene. RNA in situ hybridization studies performed on mouse-embryo tissue sections at various developmental stages revealed that Dres9 is expressed at very high levels in the neural retina and in the central nervous system (CNS), similar to its Drosophila counterpart. The high level of sequence conservation and similarities in the expression patterns of rdgB and DRES9 during development in Drosophila and mammals indicate that Dres9 is the orthologue of RdgB, and strongly suggest a possible functional conservation of these proteins during evolution. DRES9 encodes a phosphatidylinositol-transfer protein, suggesting that phosphatidylinositol may have a role as an intracellular messenger in vertebrate phototransduction. The identification of this gene and the study of its expression pattern in mammals will help shed new light on the evolution of vision mechanisms and suggest DRES9 as a candidate gene for human retinopathies.

果蝇视网膜变性B基因的哺乳动物同源物:对光传导机制进化的影响
对远亲物种中同源基因的比较分析为复杂生理过程的进化提供了重要的见解。果蝇视网膜变性B (rdgB)基因编码一种在果蝇中参与光传导的蛋白质。我们已经分离出一个人类基因,DRES9,和它的小鼠同源基因(DRES9),显示出与果蝇rdgB基因高度相似。在不同发育阶段的小鼠胚胎组织切片上进行的RNA原位杂交研究显示,Dres9在神经视网膜和中枢神经系统(CNS)中表达水平非常高,与果蝇相似。在果蝇和哺乳动物的发育过程中,rdgB和DRES9的高度序列保守性和表达模式的相似性表明,DRES9是rdgB的同源基因,并强烈提示这两种蛋白在进化过程中可能具有功能保守性。DRES9编码一种磷脂酰肌醇转移蛋白,提示磷脂酰肌醇可能在脊椎动物光导过程中发挥细胞内信使的作用。该基因的鉴定及其在哺乳动物中的表达模式的研究将有助于揭示视觉机制的进化,并提示DRES9是人类视网膜病变的候选基因。
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