Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness

Mandy  Johnstone; Alan Maclean; Lien Heyrman; An-Sofie Lenaerts; Annelie Nordin; Lars-Göran Nilsson; Peter De Rijk; Dirk Goosens; Rolf Adolfsson; David M. St. Clair; Jeremy Hall; Stephen M.  Lawrie; Andrew M.  McIntosh; Jurgen Del-Favero; Douglas H.R. Blackwood; Benjamin S. Pickard

doi:10.1159/000438788

Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness

Mandy Johnstone, Alan Maclean, Lien Heyrman, An-Sofie Lenaerts, Annelie Nordin, Lars-Göran Nilsson, Peter De Rijk, Dirk Goosens, Rolf Adolfsson, David M. St. Clair, Jeremy Hall, Stephen M. Lawrie, Andrew M. McIntosh, Jurgen Del-Favero, Douglas H.R. Blackwood, Benjamin S. Pickard

Strathclyde Institute Of Pharmacy And Biomedical Sciences

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Abstract

Robust statistical, genetic and functional evidence supports a role for DISC1 in the etiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy-number variants (CNVs) are suspected to play an important causal role in these disorders. In this study CNV-analysis of DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification (MAQ). We report finding rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the etiology of these devastating diseases.

Original language	English
Pages (from-to)	175-190
Number of pages	16
Journal	Molecular Neuropsychiatry
Volume	1
Issue number	3
Early online date	7 Oct 2015
DOIs	https://doi.org/10.1159/000438788
Publication status	Published - 31 Oct 2015

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Keywords

copy number variants
DISC1
NDE1
NDEL1
schizophrenia
affective disorder
intellectual disability

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Johnstone, M., Maclean, A., Heyrman, L., Lenaerts, A-S., Nordin, A., Nilsson, L-G., ... Pickard, B. S. (2015). Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness. Molecular Neuropsychiatry, 1(3), 175-190. https://doi.org/10.1159/000438788

Johnstone, Mandy ; Maclean, Alan ; Heyrman, Lien ; Lenaerts, An-Sofie ; Nordin, Annelie ; Nilsson, Lars-Göran ; De Rijk, Peter ; Goosens, Dirk ; Adolfsson, Rolf ; St. Clair, David M. ; Hall, Jeremy ; Lawrie, Stephen M. ; McIntosh, Andrew M. ; Del-Favero, Jurgen ; Blackwood, Douglas H.R. ; Pickard, Benjamin S. / Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness. In: Molecular Neuropsychiatry. 2015 ; Vol. 1, No. 3. pp. 175-190.

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abstract = "Robust statistical, genetic and functional evidence supports a role for DISC1 in the etiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy-number variants (CNVs) are suspected to play an important causal role in these disorders. In this study CNV-analysis of DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification (MAQ). We report finding rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the etiology of these devastating diseases.",

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Johnstone, M, Maclean, A, Heyrman, L, Lenaerts, A-S, Nordin, A, Nilsson, L-G, De Rijk, P, Goosens, D, Adolfsson, R, St. Clair, DM, Hall, J, Lawrie, SM, McIntosh, AM, Del-Favero, J, Blackwood, DHR & Pickard, BS 2015, 'Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness', Molecular Neuropsychiatry, vol. 1, no. 3, pp. 175-190. https://doi.org/10.1159/000438788

Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness. / Johnstone, Mandy ; Maclean, Alan; Heyrman, Lien; Lenaerts, An-Sofie; Nordin, Annelie; Nilsson, Lars-Göran; De Rijk, Peter; Goosens, Dirk; Adolfsson, Rolf; St. Clair, David M.; Hall, Jeremy; Lawrie, Stephen M. ; McIntosh, Andrew M. ; Del-Favero, Jurgen; Blackwood, Douglas H.R.; Pickard, Benjamin S.

In: Molecular Neuropsychiatry, Vol. 1, No. 3, 31.10.2015, p. 175-190.

Research output: Contribution to journal › Article

TY - JOUR

T1 - Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness

AU - Johnstone, Mandy

AU - Maclean, Alan

AU - Heyrman, Lien

AU - Lenaerts, An-Sofie

AU - Nordin, Annelie

AU - Nilsson, Lars-Göran

AU - De Rijk, Peter

AU - Goosens, Dirk

AU - Adolfsson, Rolf

AU - St. Clair, David M.

AU - Hall, Jeremy

AU - Lawrie, Stephen M.

AU - McIntosh, Andrew M.

AU - Del-Favero, Jurgen

AU - Blackwood, Douglas H.R.

AU - Pickard, Benjamin S.

PY - 2015/10/31

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N2 - Robust statistical, genetic and functional evidence supports a role for DISC1 in the etiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy-number variants (CNVs) are suspected to play an important causal role in these disorders. In this study CNV-analysis of DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification (MAQ). We report finding rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the etiology of these devastating diseases.

AB - Robust statistical, genetic and functional evidence supports a role for DISC1 in the etiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy-number variants (CNVs) are suspected to play an important causal role in these disorders. In this study CNV-analysis of DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification (MAQ). We report finding rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the etiology of these devastating diseases.

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KW - DISC1

KW - NDE1

KW - NDEL1

KW - schizophrenia

KW - affective disorder

KW - intellectual disability

U2 - 10.1159/000438788

DO - 10.1159/000438788

M3 - Article

VL - 1

SP - 175

EP - 190

JO - Molecular Neuropsychiatry

JF - Molecular Neuropsychiatry

SN - 2296-9609

IS - 3

ER -

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