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A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System—A Close Look at Chromosome 15

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Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini 1, 71013 San Giovanni Rotondo, Foggia, Italy
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Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania Luigi Vanvitelli, Viale Abramo Lincoln 5, 81100 Caserta, Italy
3
Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milan, Italy
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Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini 1, 71013 San Giovanni Rotondo, Foggia, Italy
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(5), 1860; https://doi.org/10.3390/ijms21051860
Received: 31 January 2020 / Revised: 2 March 2020 / Accepted: 5 March 2020 / Published: 9 March 2020
(This article belongs to the Special Issue From hIPSCs to Adult Cells in a Dish: Promises and Pitfalls)
Recent cutting-edge human genetics technology has allowed us to identify copy number variations (CNVs) and has provided new insights for understanding causative mechanisms of human diseases. A growing number of studies show that CNVs could be associated with physiological mechanisms linked to evolutionary trigger, as well as to the pathogenesis of various diseases, including cancer, autoimmune disease and mental disorders such as autism spectrum disorders, schizophrenia, intellectual disabilities or attention-deficit/hyperactivity disorder. Their incomplete penetrance and variable expressivity make diagnosis difficult and hinder comprehension of the mechanistic bases of these disorders. Additional elements such as co-presence of other CNVs, genomic background and environmental factors are involved in determining the final phenotype associated with a CNV. Genetically engineered animal models are helpful tools for understanding the behavioral consequences of CNVs. However, the genetic background and the biology of these animal model systems have sometimes led to confusing results. New cellular models obtained through somatic cellular reprogramming technology that produce induced pluripotent stem cells (iPSCs) from human subjects are being used to explore the mechanisms involved in the pathogenic consequences of CNVs. Considering the vast quantity of CNVs found in the human genome, we intend to focus on reviewing the current literature on the use of iPSCs carrying CNVs on chromosome 15, highlighting advantages and limits of this system with respect to mouse model systems. View Full-Text
Keywords: Copy Number Variation (CNV); induced pluripotent stem cells (iPSCs); 15q mice; 15q iPSCs; neurodevelopmental diseases; neuropsychiatric diseases Copy Number Variation (CNV); induced pluripotent stem cells (iPSCs); 15q mice; 15q iPSCs; neurodevelopmental diseases; neuropsychiatric diseases
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Casamassa, A.; Ferrari, D.; Gelati, M.; Carella, M.; Vescovi, A.L.; Rosati, J. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System—A Close Look at Chromosome 15. Int. J. Mol. Sci. 2020, 21, 1860.

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