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Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview

The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (...

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Autores principales: Giovenale, Angela Maria Giada, Ruotolo, Giorgia, Soriano, Amata Amy, Turco, Elisa Maria, Rotundo, Giovannina, Casamassa, Alessia, D’Anzi, Angela, Vescovi, Angelo Luigi, Rosati, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852989/
https://www.ncbi.nlm.nih.gov/pubmed/36684422
http://dx.doi.org/10.3389/fcell.2022.1107881
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author Giovenale, Angela Maria Giada
Ruotolo, Giorgia
Soriano, Amata Amy
Turco, Elisa Maria
Rotundo, Giovannina
Casamassa, Alessia
D’Anzi, Angela
Vescovi, Angelo Luigi
Rosati, Jessica
author_facet Giovenale, Angela Maria Giada
Ruotolo, Giorgia
Soriano, Amata Amy
Turco, Elisa Maria
Rotundo, Giovannina
Casamassa, Alessia
D’Anzi, Angela
Vescovi, Angelo Luigi
Rosati, Jessica
author_sort Giovenale, Angela Maria Giada
collection PubMed
description The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (CNVs) of CHRNA7 gene have been identified in humans and are genetically linked to cognitive impairments associated with multiple disorders, including schizophrenia, bipolar disorder, epilepsy, Alzheimer’s disease, and others. Currently, α7 receptor analysis has been commonly performed in animal models due to the impossibility of direct investigation of the living human brain. But the use of model systems has shown that there are very large differences between humans and mice when researchers must study the CNVs and, in particular, the CNV of chromosome 15q13.3 where the CHRNA7 gene is present. In fact, human beings present genomic alterations as well as the presence of genes of recent origin that are not present in other model systems as well as they show a very heterogeneous symptomatology that is associated with both their genetic background and the environment where they live. To date, the induced pluripotent stem cells, obtained from patients carrying CNV in CHRNA7 gene, are a good in vitro model for studying the association of the α7 receptor to human diseases. In this review, we will outline the current state of hiPSCs technology applications in neurological diseases caused by CNVs in CHRNA7 gene. Furthermore, we will discuss some weaknesses that emerge from the overall analysis of the published articles.
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spelling pubmed-98529892023-01-21 Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview Giovenale, Angela Maria Giada Ruotolo, Giorgia Soriano, Amata Amy Turco, Elisa Maria Rotundo, Giovannina Casamassa, Alessia D’Anzi, Angela Vescovi, Angelo Luigi Rosati, Jessica Front Cell Dev Biol Cell and Developmental Biology The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (CNVs) of CHRNA7 gene have been identified in humans and are genetically linked to cognitive impairments associated with multiple disorders, including schizophrenia, bipolar disorder, epilepsy, Alzheimer’s disease, and others. Currently, α7 receptor analysis has been commonly performed in animal models due to the impossibility of direct investigation of the living human brain. But the use of model systems has shown that there are very large differences between humans and mice when researchers must study the CNVs and, in particular, the CNV of chromosome 15q13.3 where the CHRNA7 gene is present. In fact, human beings present genomic alterations as well as the presence of genes of recent origin that are not present in other model systems as well as they show a very heterogeneous symptomatology that is associated with both their genetic background and the environment where they live. To date, the induced pluripotent stem cells, obtained from patients carrying CNV in CHRNA7 gene, are a good in vitro model for studying the association of the α7 receptor to human diseases. In this review, we will outline the current state of hiPSCs technology applications in neurological diseases caused by CNVs in CHRNA7 gene. Furthermore, we will discuss some weaknesses that emerge from the overall analysis of the published articles. Frontiers Media S.A. 2023-01-06 /pmc/articles/PMC9852989/ /pubmed/36684422 http://dx.doi.org/10.3389/fcell.2022.1107881 Text en Copyright © 2023 Giovenale, Ruotolo, Soriano, Turco, Rotundo, Casamassa, D’Anzi, Vescovi and Rosati. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cell and Developmental Biology
Giovenale, Angela Maria Giada
Ruotolo, Giorgia
Soriano, Amata Amy
Turco, Elisa Maria
Rotundo, Giovannina
Casamassa, Alessia
D’Anzi, Angela
Vescovi, Angelo Luigi
Rosati, Jessica
Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title_full Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title_fullStr Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title_full_unstemmed Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title_short Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
title_sort deepening the understanding of cnvs on chromosome 15q11–13 by using hipscs: an overview
topic Cell and Developmental Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852989/
https://www.ncbi.nlm.nih.gov/pubmed/36684422
http://dx.doi.org/10.3389/fcell.2022.1107881
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