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Environmental Effects on Genomic Imprinting in Development and Disease

  • Rakesh Pathak
  • Robert FeilEmail author
Reference work entry

Abstract

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.

Keywords

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

List of Abbreviations

ART

Assisted Reproductive Technology

BPA

Bisphenol A

BWS

Beckwith-Wiedemann Syndrome

ICR

Imprinting control region

IGF

Insulin-like growth factor

INS

Insulin

IUGR

Intra-uterine growth restriction

ncRNA

Noncoding RNA

SRS

Silver Russell Syndrome

TNDM

Transient neonatal diabetes mellitus

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Copyright information

© 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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