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The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders

Isles, Anthony R. ORCID: 2022. The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders. Translational Psychiatry 12 , 210. 10.1038/s41398-022-01972-4

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Imprinted genes are a subset of mammalian genes that are subject to germline parent-specific epigenetic modifications leading monoallelic expression. Imprinted gene expression is particularly prevalent in the brain and it is unsurprising that mutations affecting their expression can lead to neurodevelopmental and/or neuropsychiatric disorders in humans. Here I review the evidence for this, detailing key neurodevelopmental disorders linked to imprinted gene clusters on human chromosomes 15q11-q13 and 14q32, highlighting genes and possible regulatory links between these different syndromes. Similarly, rare copy number variant mutations at imprinted clusters also provide strong links between abnormal imprinted gene expression and the predisposition to severe psychiatric illness. In addition to direct links between brain-expressed imprinted genes and neurodevelopmental and/or neuropsychiatric disorders, I outline how imprinted genes that are expressed in another tissue hotspot, the placenta, contribute indirectly to abnormal brain and behaviour. Specifically, altered nutrient provisioning or endocrine signalling by the placenta caused by abnormal expression of imprinted genes may lead to increased prevalence of neurodevelopmental and/or neuropsychiatric problems in both the offspring and the mother.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information: License information from Publisher: LICENSE 1: URL:, Type: open-access
Publisher: Springer Nature
ISSN: 2158-3188
Date of First Compliant Deposit: 25 May 2022
Date of Acceptance: 4 May 2022
Last Modified: 10 May 2023 20:00

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