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RESEARCH PRODUCT

Genomic imprinting and neurodevelopment

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Abstract During mammalian development, most genes are equally expressed from both the maternal and the paternal alleles. However, a minority of genes known as “imprinted genes’” are expressed or silenced from either the maternal or the paternal homologue, resulting functionally monoallelic. This process known as “genomic imprinting” is essential for normal development and shows tissue and developmental-stage specificity, suggesting a key role in gene dosage fine-tuning. Furthermore, genomic imprinting is highly prevalent in the brain, and many genes with a key role in pre- and postnatal neurodevelopment are expressed in a parent-of-origin specific manner in the central nervous system. This chapter aims to gather the current knowledge about the contribution of imprinted genes to mammalian neurodevelopment and discuss some unanswered questions concerning the regulation of genomic imprinting in the brain. Finally, we review the pathological outcomes resulting from loss of imprinting in these genes, in order to elucidate the role of genomic imprinting in the development of human syndromes and during brain tumor formation.