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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Analysis of the blind Drosophila mutant ninaB identifies the gene encoding the key enzyme for vitamin A formation in vivo
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Analysis of the blind Drosophila mutant ninaB identifies the gene encoding the key enzyme for vitamin A formation in vivo

机译：盲果蝇突变体ninaB的分析确定了编码体内维生素A形成关键酶的基因

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摘要

Visual pigments (rhodopsins) are composed of a chromophore (vitamin A derivative) bound to a protein moiety embedded in the retinal membranes. Animals cannot synthesize the visual chro- mophore de novo but rely on the uptake of carotenoids, from which vitamin A is formed enzymatically by oxidative cleavage. Despite its importance, the enzyme catallyzing the key step in vitamin A formation resisted molecular analyses until recently, when the successful cloning of a cDNA encoding an enzyme with β,β-carotene-15,15'-dioxygenase activity from Drosophila was re- ported. To prove its identity with the key enzyme for vitamin A formation in vivo, we analyzed the blind Drosophila mutant ninaB. In two independent ninaB alleles, we found mutations in the gene encoding the β,β-carotene-15,15'-dioxygenase. These mutations lead to a defect in vitamin A formation and are responsible for blindness of these flies.
机译：视觉色素（视紫红质）由发色团（维生素A衍生物）组成，发色团与嵌入在视网膜膜中的蛋白质部分结合。动物无法从头合成视觉色素，而只能依靠类胡萝卜素的摄取，而类胡萝卜素是通过氧化裂解酶促地形成维生素A的。尽管它具有重要意义，但催化维生素A形成关键步骤的酶一直未能通过分子分析，直到最近才报道了果蝇成功克隆了编码具有β，β-胡萝卜素-15,15'-双加氧酶活性的酶的cDNA。 。为了证明其与体内形成维生素A的关键酶的同一性，我们分析了果蝇的突变突变体ninaB。在两个独立的ninaB等位基因中，我们发现了编码β，β-胡萝卜素15,15'-双加氧酶的基因中的突变。这些突变导致维生素A形成缺陷，并导致这些果蝇失明。

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