title: Analysis of Imprinted Gene Regulation.
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.
authors.affiliation: Department of Biological Sciences, North Carolina State University, Raleigh, NC, 27695, USA. daskaar@ncsu.edu.
authors.forename: David A
authors.initials: DA
authors.lastname: Skaar
authors.affiliation: Department of Oncology, McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI, 53706, USA.|Department of Sport and Exercise Sciences, Institute of Sport and Physical Activity Research (ISPAR), University of Bedfordshire, Bedford, Bedfordshire, MK41 9EA, UK.
authors.forename: Randy L
authors.initials: RL
authors.lastname: Jirtle
mesh_terms: D000483:Alleles; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling / Q000379:methods*; D018392:Genomic Imprinting; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D062085:RNA, Long Noncoding
keywords: Bisulfite conversion; Differentially methylated region (DMR); Imprinted gene; Monoallelic expression; Single nucleotide polymorphism (SNP)