Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

Genome Research
Andrew J SharpStylianos E Antonarakis

Abstract

The maternal and paternal genomes possess distinct epigenetic marks that distinguish them at imprinted loci. In order to identify imprinted loci, we used a novel method, taking advantage of the fact that uniparental disomy (UPD) provides a system that allows the two parental chromosomes to be studied independently. We profiled the paternal and maternal methylation on chromosome 15 using immunoprecipitation of methylated DNA and hybridization to tiling oligonucleotide arrays. Comparison of six individuals with maternal versus paternal UPD15 revealed 12 differentially methylated regions (DMRs). Putative DMRs were validated by bisulfite sequencing, confirming the presence of parent-of-origin-specific methylation marks. We detected DMRs associated with known imprinted genes within the Prader-Willi/Angelman syndrome region, such as SNRPN and MAGEL2, validating this as a method of detecting imprinted loci. Of the 12 DMRs identified, eight were novel, some of which are associated with genes not previously thought to be imprinted. These include a site within intron 2 of IGF1R at 15q26.3, a gene that plays a fundamental role in growth, and an intergenic site upstream of GABRG3 that lies within a previously defined candidate region confe...Continue Reading

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Citations

Aug 25, 2011·Genome Research·Andrew J SharpStylianos E Antonarakis
Oct 24, 2014·Biology·Vichithra R B LiyanageJames R Davie
Aug 23, 2011·Journal of Neurodevelopmental Disorders·Elisabeth M DykensElizabeth Roof
Apr 11, 2012·Journal of Neuropathology and Experimental Neurology·Jerzy WegielThomas Wisniewski
Nov 11, 2011·The Journal of Investigative Dermatology·Elisha D O RobersonAnne M Bowcock
Sep 22, 2011·Clinical Genetics·A Guilmatre, A J Sharp
Dec 9, 2014·Epigenetics : Official Journal of the DNA Methylation Society·Jason O BrantThomas P Yang
Nov 20, 2013·Epigenetics : Official Journal of the DNA Methylation Society·Katariina Hannula-JouppiJuha Kere
Sep 22, 2019·Scientific Reports·Keisuke IkegamiYasufumi Shigeyoshi
Apr 13, 2018·Evolution, Medicine, and Public Health·Avantika Mainieri, David Haig
Nov 27, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kevin YauyChristian Gilissen

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