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Updated: Mar 20, 2026
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Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species
Published on: August 30, 2012
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Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness
Mandy Johnstone1, Alan Maclean1, Lien Heyrman2
1Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK; Medical Genetics, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Molecular Neuropsychiatry
|May 31, 2016
Summary
Rare copy number variants (CNVs) in DISC1 and its partners were found in population samples. These findings support the role of DISC1, its interacting proteins, and structural variants in major mental illness.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Disrupted-In-Schizophrenia 1 (DISC1) is strongly implicated in major mental illness.
- DISC1 protein partners are also linked to neurodevelopmental and psychiatric disorders.
- Copy number variants (CNVs) are increasingly recognized as important genetic factors in these conditions.
Purpose of the Study:
- To investigate the role of CNVs in DISC1 and its key binding partners in major mental illness.
- To analyze CNVs in DISC1, PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT, and PDE4B.
Main Methods:
- Multiplex amplicon quantification was used for CNV analysis.
- Population-based samples from Scotland and Northern Sweden were analyzed.
- Specific genes analyzed included DISC1, NDE1, NDEL1, and CIT.
Main Results:
- Rare CNVs were identified in DISC1, NDE1 (including the 16p13.11 duplication region), NDEL1 (overlapping MYH10), and CIT.
- The study detected structural variants within DISC1 and its interacting partners.
Conclusions:
- Findings reinforce the involvement of DISC1 and its interaction network in neuropsychiatric disorders.
- This study highlights the significant contribution of structural variants, such as CNVs, to the etiology of severe mental illnesses.
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