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
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 single ATP7 gene is present in non-chordate animals while it is divided into ATP7A and ATP7B in 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 on ATP7 genes 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 of ATP7 genes 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 of ATP7s/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.
Animals, Archaea, Copper, Copper-Transporting ATPases/genetics, Humans, Mice, Neurons, Synaptic Transmission, Invertebrate, Animal models, Copper-transporting ATPases, ATP7 genes, ATP7 proteins, Menkes disease, Vertebrate, Non-bilaterian, Wilson's disease
Fodor, István
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Yañez-Guerra, Luis Alfonso
cbca947b-bbf0-4b91-96b0-4a126e3b94b6
Kiss, Bence
abf713c4-4e0c-4823-b033-1ad5d65662f9
Büki, Gergely
3498c578-c134-4cc2-b9cd-f896b916dab6
Pirger, Zsolt
11a48a72-9576-415e-b9e5-293f9928c42e
20 August 2023
Fodor, István
a77c2b6a-30bb-4e5c-8fc8-f25013a21949
Yañez-Guerra, Luis Alfonso
cbca947b-bbf0-4b91-96b0-4a126e3b94b6
Kiss, Bence
abf713c4-4e0c-4823-b033-1ad5d65662f9
Büki, Gergely
3498c578-c134-4cc2-b9cd-f896b916dab6
Pirger, Zsolt
11a48a72-9576-415e-b9e5-293f9928c42e
Fodor, István, Yañez-Guerra, Luis Alfonso, Kiss, Bence, Büki, Gergely and Pirger, Zsolt
(2023)
Copper-transporting ATPases throughout the animal evolution - from clinics to basal neuron-less animals.
Gene, 885, [147720].
(doi:10.1016/j.gene.2023.147720).
Abstract
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 single ATP7 gene is present in non-chordate animals while it is divided into ATP7A and ATP7B in 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 on ATP7 genes 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 of ATP7 genes 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 of ATP7s/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.
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More information
Accepted/In Press date: 16 August 2023
e-pub ahead of print date: 18 August 2023
Published date: 20 August 2023
Additional Information:
Funding Information:
This work was supported by the National Brain Project (#NAP2022-I-10/2022; Z.P.), the Hungarian Scientific Research Fund (#138039; Z.P.), and the BBSRC Discovery fellowship (BB/W010305/1; L.A.Y.G.).
Funding Information:
The authors thank Dr. Gábor Markó (neurologist; St. György Hospital, Székesfehérvár, Hungary) for one of his posts on Twitter that inspired the idea of this work. Also, the authors thank Prof. Robert J. Walker (University of Southampton; the UK) for checking the English of the manuscript. Open access funding was provided by Eötvös Loránd Research Network (ELKH).
Keywords:
Animals, Archaea, Copper, Copper-Transporting ATPases/genetics, Humans, Mice, Neurons, Synaptic Transmission, Invertebrate, Animal models, Copper-transporting ATPases, ATP7 genes, ATP7 proteins, Menkes disease, Vertebrate, Non-bilaterian, Wilson's disease
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Local EPrints ID: 483233
URI: http://eprints.soton.ac.uk/id/eprint/483233
ISSN: 0378-1119
PURE UUID: bdf52765-8160-41be-9673-71001e46e3e5
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Date deposited: 26 Oct 2023 16:51
Last modified: 18 Mar 2024 04:15
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Contributors
Author:
István Fodor
Author:
Luis Alfonso Yañez-Guerra
Author:
Bence Kiss
Author:
Gergely Büki
Author:
Zsolt Pirger
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