Abstract

Genomic imprinting in mammals is the process by which the nonequivalence of parental genomes is established, leading to parent-of-origin effects on several processes, including transcription. Establishment and maintenance of imprints is needed for viability and healthy embryogenesis. DNA methylation has the dual role of marking genes as either maternally or paternally inherited and of silencing gene expression on one of the two alleles. Furthermore, imprinting control extends over large domains of genes by mechanisms that have yet to be elucidated. Studies of imprinted regions have revealed many of the broader principles of the epigenetic control of transcription, including silencing mechanisms and the role of noncoding RNAs. Since imprinted genes are functional haploids, disruption of the one active allele can lead to a variety of developmental diseases, behavioral disorders, and cancer. Comparative and evolutionary studies to determine how and why imprinting came about have generated several hypotheses that are still under debate.

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