title: Methylation analysis of KvDMR1 in human oocytes.
abstract: Recently, several reports have been published that showed a higher incidence of assisted reproductive technologies (ART) in patients with Beckwith-Wiedemann syndrome compared with the general population, and in most of these patients, aberrant methylation imprints of KvDMR1 have been found. This has led to the concern that ART might increase the incidence of imprinting syndromes such as Beckwith-Wiedemann syndrome. Not much is known on environmental or genetic factors that may interfere with the processes of imprint maintenance or resetting. A methylation analysis of KvDMR1 was performed in human oocytes at different stages of nuclear maturity and in sperm cells. The results indicate that the maternal methylation imprints were already established at the germinal vesicle stage, whereas all sperm cells were unmethylated, thereby showing that the KvDMR1 carries a germline methylation imprint. For one of the oocytes analysed, an unmethylated pattern was found, which highlights the need for further molecular studies that consider the safety of ART.
authors.affiliation: Research Centre Reproduction and Genetics, Academisch Ziekenhuis Vrije Universiteit Brussel, Laarbeeklaan, Brussels, Belgium.
authors.forename: Elke
authors.initials: E
authors.lastname: Geuns
authors.forename: Pierre
authors.initials: P
authors.lastname: Hilven
authors.forename: André
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: Inge
authors.initials: I
authors.lastname: Liebaers
authors.forename: Martine
authors.initials: M
authors.lastname: De Rycke
mesh_terms: D001483:Base Sequence; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D019175:DNA Methylation; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009865:Oocytes / Q000502:physiology*; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D020554:Sperm Injections, Intracytoplasmic
chemical_list: C485621:KCNQ1OT1 long non-coding RNA, human; D008565:Membrane Proteins; D024642:Potassium Channels, Voltage-Gated; D004247:DNA