Environmental Effects on Genomic Imprinting in Development and Disease

  • Rakesh Pathak
  • Robert FeilEmail author
Reference work entry


Genomic imprinting mediates the parent-of-origin-specific, mono-allelic expression of many protein-coding genes and noncoding RNAs. This paradigm for epigenetic gene regulation plays diverse roles in mammalian development, growth and behavior. Mechanistically, it involves parentally inherited DNA methylation marks that control clusters of imprinted genes. Perturbation of these epigenetic imprints affects embryonic and postnatal development and leads to complex diseases in humans, including different types of diabetes. This chapter discusses imprinted genes, with emphasis on those that control metabolism and cellular proliferation, several of which encode proteins of the insulin-like growth factor/insulin signaling pathway. Nutrition, chemical pollutants, and other environmental cues can readily perturb DNA methylation imprints, not only during development, but sometimes even in adults. Such epigenetic alterations (“epimutations”) may affect imprinted gene expression and, hence, can have deleterious effects on phenotype. In the future, clinical and environmental imprinting studies will gain from taking a broader approach that considers not only the imprinted gene loci themselves, but also similarly controlled loci located elsewhere in the genome.


Epigenetics Environment Genomic imprinting DNA methylation Growth Metabolism IGF/Insulin pathway Endocrine disruptor 

List of Abbreviations


Assisted Reproductive Technology


Bisphenol A


Beckwith-Wiedemann Syndrome


Imprinting control region


Insulin-like growth factor




Intra-uterine growth restriction


Noncoding RNA


Silver Russell Syndrome


Transient neonatal diabetes mellitus


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Institute of Molecular Genetics (IGMM), Centre National de Recherche Scientifique (CNRS), UMR-5535University of MontpellierMontpellierFrance

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