Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism

David St. Clair; Mandy Johnstone

doi:10.1098/rstb.2017.0037

Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism

David St. Clair^*, Mandy Johnstone

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

18 Citations (Scopus)

9 Downloads (Pure)

Abstract

Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Using the DISC1/NDE1 and CYFIP1/EIF4E loci as exemplars, we explore the opportunities and challenges of using animal models and human-induced pluripotent stem cell technologies to further understand/treat and potentially reverse the worst consequences of these debilitating disorders.

Original language	English
Article number	20170037
Journal	Philosophical Transactions of the Royal Society B: Biological Sciences
Volume	373
Issue number	1742
Early online date	19 Jan 2018
DOIs	https://doi.org/10.1098/rstb.2017.0037
Publication status	Published - 19 Mar 2018

Bibliographical note

Funding
M.J. is funded by a Wellcome Trust Clinical Postdoctoral Research Fellowship, the Sackler Foundation and the RS Macdonald Trust.

Acknowledgements
We are grateful to the Royal Society for their support of the costs of attending the meeting ‘Of mice and mental health: facilitating dialogue between basic and clinical neuroscientists' convened by Amy Milton and Emily A. Holmes.

Keywords

Autism
Mouse and iPSC models
Schizophrenia

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10.1098/rstb.2017.0037Licence: CC BY

Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism
c 2018 The Authors. Published by the Royal Society under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/, which permits unrestricted use, provided the original author and source are credited.
Final published version, 597 KBLicence: CC BY

Cite this

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abstract = "Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Using the DISC1/NDE1 and CYFIP1/EIF4E loci as exemplars, we explore the opportunities and challenges of using animal models and human-induced pluripotent stem cell technologies to further understand/treat and potentially reverse the worst consequences of these debilitating disorders.",

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AB - Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Using the DISC1/NDE1 and CYFIP1/EIF4E loci as exemplars, we explore the opportunities and challenges of using animal models and human-induced pluripotent stem cell technologies to further understand/treat and potentially reverse the worst consequences of these debilitating disorders.

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Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism

Abstract

Bibliographical note

Keywords

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