Abstract
Genetic studies have been well established for identifying sequence variants associated with phenotypes. With the expanding field of epigenetics, and the growing understanding of epigenetic regulation of gene expression, similar studies can be undertaken to also define associations between epigenetic variation and phenotypes. Of particular interest are imprinted genes, which have parent-of-origin specific regulation and expression, and are key regulators of early development. Herein, we describe methods for examining epigenetic regulation by the two major hallmarks of imprinted genes: differentially methylated regions (DMRs), regulatory DNA sequences with allele specific methylation; and monoallelic expression, the silencing and transcription of opposite alleles in a parent-of-origin specific manner.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Court F, Martin-Trujillo A, Romanelli V et al (2013) Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 34:595–602
Docherty LE, Rezwan FI, Poole RL et al (2014) Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J Med Genet 51:229–238
Horsthemke B (2014) In brief: genomic imprinting and imprinting diseases. J Pathol 232:485–487
Girardot M, Feil R, Lleres D (2013) Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications. Epigenomics 5:715–728
Rozek LS, Dolinoy DC, Sartor MA et al (2014) Epigenetics: relevance and implications for public health. Annu Rev Public Health 35:105–122
Murphy SK, Adigun A, Huang Z et al (2011) Gender-specific methylation differences in relation to prenatal exposure to cigarette smoke. Gene 494:36–43
Cooper WN, Khulan B, Owens S et al (2012) DNA methylation profiling at imprinted loci after periconceptional micronutrient supplementation in humans: results of a pilot randomized controlled trial. FASEB J 26:1782–1790
Murphy SK, Huang Z, Hoyo C (2012) Differentially methylated regions of imprinted genes in prenatal, perinatal and postnatal human tissues. PLoS One 7, e40924
Piepenburg O, Williams CH, Stemple DL et al (2006) DNA detection using recombination proteins. PLoS Biol 4, e204
Wojdacz TK, Hansen LL, Dobrovic A (2008) A new approach to primer design for the control of PCR bias in methylation studies. BMC Res Notes 1:54
Shen L, Guo Y, Chen X et al (2007) Optimizing annealing temperature overcomes bias in bisulfite PCR methylation analysis. Biotechniques 42:48–58
Moskalev EA, Zavgorodnij MG, Majorova SP et al (2011) Correction of PCR-bias in quantitative DNA methylation studies by means of cubic polynomial regression. Nucleic Acids Res 39, e77
Chomczynski P, Sacchi N (2006) The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: twenty-something years on. Nat Protoc 1:581–585
Pinto FL, Svensson H, Lindblad P (2006) Generation of non-genomic oligonucleotide tag sequences for RNA template-specific PCR. BMC Biotechnol 6:31
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this protocol
Cite this protocol
Skaar, D.A., Jirtle, R.L. (2015). Analysis of Imprinted Gene Regulation. In: Haggarty, P., Harrison, K. (eds) Population Epigenetics. Methods in Molecular Biology, vol 1589. Humana Press, New York, NY. https://doi.org/10.1007/7651_2015_264
Download citation
DOI: https://doi.org/10.1007/7651_2015_264
Published:
Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-6901-2
Online ISBN: 978-1-4939-6903-6
eBook Packages: Springer Protocols