Abstract
Imprinted genes are an epigenetically regulated class of genes that are preferentially expressed from one parental allele. A number of these genes are crucial for placental function and embryonic growth in mice and humans. Disruption of imprinted genes is also associated with several neurodevelopmental disorders, although the role of genomic imprinting in the brain remains largely unresolved. In this article, we describe current knowledge on the various epigenetic mechanisms that can drive monoallelic expression, provide examples of imprinted genes with relevant function in the brain and discuss imprinted gene deregulation in various neurodevelopmental disorders. Continued efforts in this field will be necessary in order to fully appreciate how the modulation of imprinted gene expression is essential to achieve normal development, and therefore function, of the mammalian nervous system.
Financial & competing interests disclosure
Research in the laboratory of Nathalie G Bérubé is supported by grants from the Canadian Institutes for Health Research (CIHR), Natural Sciences and Engineering Research Council of Canada (NSERC) and the International Rett Syndrome Foundation (IRSF). Nathalie G Bérubé is the recipient of a CIHR New Investigator Award and Kristin D Kernohan was supported by NSERC Canada Graduate and Ontario Graduate Scholarships. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.