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

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 evolut...

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Vydáno v:International journal of molecular sciences Ročník 21; číslo 5; s. 1860
Hlavní autoři: Casamassa, Alessia, Ferrari, Daniela, Gelati, Maurizio, Carella, Massimo, Vescovi, Angelo Luigi, Rosati, Jessica
Médium: Journal Article
Jazyk:angličtina
Vydáno: Switzerland MDPI AG 09.03.2020
MDPI
Témata:
Animals
Brain
Cellular Reprogramming - genetics
Central Nervous System - physiology
Chromosomes
Chromosomes, Human, Pair 15 - genetics
DNA Copy Number Variations - genetics
Genetic Diseases, Inborn - genetics
Genetic disorders
Genomic Instability - genetics
Humans
Induced Pluripotent Stem Cells - physiology
Mutation
Review
neurodevelopmental diseases
15q iPSCs
Copy Number Variation (CNV)
induced pluripotent stem cells (iPSCs)
15q mice
neuropsychiatric diseases
ISSN:1422-0067, 1661-6596, 1422-0067
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Shrnutí: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.
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ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms21051860