The role of genomic imprinting in biology and disease: an expanding view

@article{Peters2014TheRO,
  title={The role of genomic imprinting in biology and disease: an expanding view},
  author={Josephine Peters},
  journal={Nature Reviews Genetics},
  year={2014},
  volume={15},
  pages={517-530}
}
  • J. Peters
  • Published 1 August 2014
  • Biology, Medicine
  • Nature Reviews Genetics
Genomic imprinting is an epigenetic phenomenon that results in monoallelic gene expression according to parental origin. It has long been established that imprinted genes have major effects on development and placental biology before birth. More recently, it has become evident that imprinted genes also have important roles after birth. In this Review, I bring together studies of the effects of imprinted genes from the prenatal period onwards. Recent work on postnatal stages shows that imprinted… 
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Interactions between the genome, the epigenome and the environment in germ cells and early embryos have an impact on developmental outcomes and on the heritability of imprinting disorders.
Imprinted genes and the regulation of placental endocrine function: Pregnancy and beyond.
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This review focuses on the function of imprinted genes in regulating placental hormones, and the probability that these functions manifest their impact beyond pregnancy.
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DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting
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Key milestones in DNA methylation patterning in the female germline and the embryo focusing on humans are reviewed and the finding that defects in a cytoplasmic protein complex could have severe impacts on genomic methylation at critical times in gamete or early embryo development has wider implications beyond these relatively rare disorders.
Imprinted Genes and Hypothalamic Function
TLDR
This chapter provides an overview of imprinted genes with roles in the hypothalamic regulation of whole-body energy homeostasis, neuroendocrine hormone functions, and circadian rhythmicity and outlines methodological approaches for the investigation of DNA methylation marks and allelic gene expression, including bisulfite conversion of DNA and pyrosequencing.
Regulatory links between imprinted genes: evolutionary predictions and consequences
TLDR
An evolutionary view of these trans-regulatory effects provides a novel interpretation of the logic of gene networks within species and has implications for the origin of reproductive isolation between species.
The landscape of genomic imprinting across diverse adult human tissues.
TLDR
Tissue specificity of imprinting is widespread, and gender-specific effects are revealed in a small number of genes in muscle with stronger imprinting in males.
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