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Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD

Drakulic, Danijela ; Djurovic, Srdjan ; Syed, Yasir Ahmed ; Trattaro, Sebastiano ; Caporale, Nicolò ; Falk, Anna LU ; Ofir, Rivka ; Heine, Vivi M ; Chawner, Samuel J R A and Rodriguez-Moreno, Antonio , et al. (2020) In Molecular Autism 11(1). p.42-42
Abstract

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine... (More)

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
Animals, Autism Spectrum Disorder/etiology, DNA Copy Number Variations, Disease Susceptibility, Gene Expression Regulation, Genetic Predisposition to Disease, Genomics/methods, Humans, Induced Pluripotent Stem Cells/metabolism, Neurodevelopmental Disorders/etiology, Neurons/metabolism, Synapses/metabolism
in
Molecular Autism
volume
11
issue
1
pages
42 - 42
publisher
BioMed Central (BMC)
external identifiers
  • scopus:85085908802
  • pmid:32487215
ISSN
2040-2392
DOI
10.1186/s13229-020-00343-4
language
English
LU publication?
no
id
e3347f69-7c74-4ee4-b318-c2b65ff0e05c
date added to LUP
2021-08-09 14:15:52
date last changed
2024-03-08 15:09:06
@article{e3347f69-7c74-4ee4-b318-c2b65ff0e05c,
  abstract     = {{<p>Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.</p>}},
  author       = {{Drakulic, Danijela and Djurovic, Srdjan and Syed, Yasir Ahmed and Trattaro, Sebastiano and Caporale, Nicolò and Falk, Anna and Ofir, Rivka and Heine, Vivi M and Chawner, Samuel J R A and Rodriguez-Moreno, Antonio and van den Bree, Marianne B M and Testa, Giuseppe and Petrakis, Spyros and Harwood, Adrian J}},
  issn         = {{2040-2392}},
  keywords     = {{Animals; Autism Spectrum Disorder/etiology; DNA Copy Number Variations; Disease Susceptibility; Gene Expression Regulation; Genetic Predisposition to Disease; Genomics/methods; Humans; Induced Pluripotent Stem Cells/metabolism; Neurodevelopmental Disorders/etiology; Neurons/metabolism; Synapses/metabolism}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{1}},
  pages        = {{42--42}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{Molecular Autism}},
  title        = {{Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD}},
  url          = {{https://lup.lub.lu.se/search/files/101032051/Copy_number_variants_.pdf}},
  doi          = {{10.1186/s13229-020-00343-4}},
  volume       = {{11}},
  year         = {{2020}},
}