Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.
15q11-13
CHRNA7
CNV
copy number variation
neurodevelopmental disorders
neuropsychiatric disorders
nicotinic acetylcholine receptor
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2022
2022
Historique:
received:
25
11
2022
accepted:
16
12
2022
entrez:
23
1
2023
pubmed:
24
1
2023
medline:
24
1
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36684422
doi: 10.3389/fcell.2022.1107881
pii: 1107881
pmc: PMC9852989
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1107881Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2023 Giovenale, Ruotolo, Soriano, Turco, Rotundo, Casamassa, D’Anzi, Vescovi and Rosati.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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