title: Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.
abstract: Eight syndromes are associated with the loss of methylation at specific imprinted loci. There has been increasing evidence that these methylation defects in patients are not isolated events occurring at a given disease-associated locus but that some of these patients may have multi-locus imprinting disturbances (MLID) affecting additional imprinted regions. With the recent advances in technology, methylation profiling has revealed that imprinted loci represent only a small fraction of the methylation differences observed between the gametes. To figure out how imprinting anomalies occur at multiple imprinted domains, we have to understand the interplay between DNA methylation and histone modifications in the process of selective imprint protection during pre-implantation reprogramming, which, if disrupted, leads to these complex imprinting disorders (IDs).
authors.affiliation: Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Sanchez-Delgado
authors.affiliation: DiSTABiF, Seconda Università degli Studi di Napoli, Caserta; Institute of Genetics and Biophysics - ABT, CNR, Napoli, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Riccio
authors.affiliation: Institute of Human Genetics University Hospital Aachen, Aachen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.affiliation: Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro deInvestigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.affiliation: Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Southampton, UK.
authors.forename: Deborah
authors.initials: D
authors.lastname: Mackay
authors.affiliation: Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain. Electronic address: dmonk@idibell.cat.
authors.forename: David
authors.initials: D
authors.lastname: Monk
mesh_terms: D019175:DNA Methylation / Q000235:genetics*; D015894:Genome, Human; D018392:Genomic Imprinting / Q000235:genetics*; D005854:Germ Cells; D042421:Histone Code / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics
keywords: NLRPs; ZFP57; germline methylation; imprinting; multi-locus imprinting disturbances