Copper-transporting ATPases throughout the animal evolution - from clinics to basal neuron-less animals.
Copper-transporting ATPases throughout the animal evolution - from clinics to basal neuron-less animals.
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DOI：
10.1016/j.gene.2023.147720
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发表时间：
2023-08
期刊：
影响因子：
3.5
通讯作者：
I. Fodor;Luis Alfonso Yañez-Guerra;B. Kiss;Gergely Büki;Z. Pirger
中科院分区：
文献类型：
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作者：
I. Fodor;Luis Alfonso Yañez-Guerra;B. Kiss;Gergely Büki;Z. Pirger
铜转运ATP酶是一类重金属转运蛋白，广泛存在于所有生物体内。在动物中，它们通常被称为ATP 7蛋白，并参与许多不同的生理过程，包括维持铜稳态和向铜酶供应铜。在非脊索动物中存在一个单一的ATP 7基因，而在脊索动物中分为ATP 7 A和ATP 7 B。在人类中，ATP 7蛋白的功能障碍可导致严重的遗传疾病，例如门克斯病和威尔逊病，其特征在于异常的铜转运和积累，引起显著的健康并发症。因此，在人类和小鼠中对ATP 7基因和ATP 7蛋白进行了大量的研究，以了解病理生理条件并找到潜在的治疗干预措施。铜转运ATP酶也已在一些非哺乳类脊椎动物，原口动物，单细胞真核生物，原核生物和古细菌中进行了研究，以获得有用的进化见解。然而，ATP 7在许多动物中的功能在某种程度上被忽视了，特别是在非双侧性动物中。以往的研究仅对ATP 7基因和蛋白的功能和进化进行了概括性的总结，并仅包括了经典的脊椎动物和无脊椎动物模型。鉴于这一点，以及近年来关于这一主题的大量新信息已经发表的事实，本研究旨在提供最新的，全面的总结ofATP 7s/ATP 7s，并对它们的进化关系提供新的见解。此外，这项工作提供了一个框架，研究这些基因和蛋白质在非双侧性。作为早期分支的动物，它们对于理解这些蛋白质的功能进化以及它们在铜稳态和神经传递中的重要作用是重要的。
Copper-transporting ATPases are a group of heavy metal-transporting proteins and which can be found in all living organisms. In animals, they are generally referred to as ATP7 proteins and are involved in many different physiological processes including the maintaining of copper homeostasis and the supply of copper to cuproenzymes. A singleATP7gene is present in non-chordate animals while it is divided intoATP7AandATP7Bin chordates. In humans, dysfunction of ATP7 proteins can lead to severe genetic disorders, such as, Menkes disease and Wilson's disease, which are characterized by abnormal copper transport and accumulation, causing significant health complications. Therefore, there is a substantial amount of research onATP7genes and ATP7 proteins in humans and mice to understand pathophysiological conditions and find potential therapeutic interventions. Copper-transporting ATPases have also been investigated in some non-mammalian vertebrates, protostomes, single-cellular eukaryotes, prokaryotes, and archaea to gain useful evolutionary insights. However, ATP7 function in many animals has been somewhat neglected, particularly in non-bilaterians. Previous reviews on this topic only broadly summarized the available information on the function and evolution ofATP7genes and ATP7 proteins and included only the classic vertebrate and invertebrate models. Given this, and the fact that a considerable amount of new information on this topic has been published in recent years, the present study was undertaken to provide an up-to-date, comprehensive summary ofATP7s/ATP7s and give new insights into their evolutionary relationships. Additionally, this work provides a framework for studying these genes and proteins in non-bilaterians. As early branching animals, they are important to understand the evolution of function of these proteins and their important role in copper homeostasis and neurotransmission.