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 journalReview article

6 Citations (Scopus)
4 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 languageEnglish
Article number20170037
JournalPhilosophical Transactions of the Royal Society B: Biological Sciences
Volume373
Issue number1742
Early online date19 Jan 2018
DOIs
Publication statusPublished - 19 Mar 2018

Fingerprint

Genetic Models
Autistic Disorder
Stem cells
Transgenic Mice
stem cells
mutation
Schizophrenia
Stem Cells
Eukaryotic Initiation Factor-4E
genetically modified organisms
Technology
Induced Pluripotent Stem Cells
Mutation
loci
Genetic Loci
mice
Molecular Biology
Animals
Animal Models
molecular genetics

Keywords

  • Autism
  • Mouse and iPSC models
  • Schizophrenia

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

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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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.",
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N1 - 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.

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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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