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Epigenetics Volume 13, 2018 - Issue 2
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

David MonkImprinting and Cancer group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, SpainORCID Iconhttp://orcid.org/0000-0001-8991-0497View further author information
ORCID Icon,
Joannella MoralesEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UKView further author information
,
Johan T. den DunnenHuman Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, the NetherlandsView further author information
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Silvia RussoLaboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, ItalyView further author information
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Franck CourtReproduction and Developmental Genetics, Centre National de la Recherche Scientifique, Clermont-Ferrand, FranceView further author information
,
Dirk PrawittCenter for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Obere Zahlbacher, Mainz, GermanyView further author information
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Thomas EggermannInstitute of Human Genetics, Technical University of Aachen, Aachen, GermanyView further author information
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Jasmin BeygoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, GermanyView further author information
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Karin BuitingInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, GermanyView further author information
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Zeynep TümerApplied Human Molecular Genetics, Kennedy Centre, Copenhagen University Hospital, Rigshospitalet, Glostrup, DenmarkView further author information
& the Nomenclature group of the European Network for Human Congenital Imprinting Disorders show all
Pages 117-121 | Received 07 Oct 2016, Accepted 17 Nov 2016, Published online: 25 Jan 2018

References

  • Monk D. Germline-derived DNA methylation and early embryo epigenetic reprogramming: The selected survival of imprints. Int J Biochem Cell Biol 2015; 67:128-38; PMID:25966912; https://doi.org/10.1016/j.biocel.2015.04.014
  • Ferguson-Smith AC. Genomic imprinting: the emergence of an epigenetic paradigm. Nat Rev Genet 2011; 12(8):565-75; PMID:21765458; https://doi.org/10.1038/nrg3032
  • Ferguson-Smith AC, Sasaki H, Cattanach BM, Surani MA. Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature 1993; 362(6422):751-5; PMID:8469285; https://doi.org/10.1038/362751a0
  • Stöger R, Kubicka P, Liu CG, Kafri T, Razin A, Cedar H, Barlow DP. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 1993; 73(1):61-71; PMID:8462104; https://doi.org/10.1016/0092-8674(93)90160-R
  • Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, Monk D. Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans. Trends Genet 2016; 32(7):444-55; PMID:27235113; https://doi.org/10.1016/j.tig.2016.05.001
  • Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simón C, Moore H, Harness JV, et al. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res 2014; 24(4):554-69; PMID:24402520; https://doi.org/10.1101/gr.164913.113
  • MacArthur JA, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P, Kileck P, Dalgleish R, Maglott DR, Cunningham F. Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucl Acid Res 2014; 42:D873-D878; PMID:24285302; https://doi.org/10.1093/nar/gkt1198
  • Saffery R, Gordon L. Time for a standardized system of reporting sites of genomic methylation. Genome Biol 2015; 16:85; PMID:25924664; https://doi.org/10.1186/s13059-015-0654-9
  • den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum.Mutat 2016; 37(6):564-569; PMID:26931183; https://doi.org/10.1002/humu.22981
  • Ogino S, Gulley ML, den Dunnen JT, Wilson RB, Association for Molecular Patholpogy Training and Education Committtee. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 2007; 9(1):1-6; PMID:17251329; https://doi.org/10.2353/jmoldx.2007.060081
  • Soellner L, Monk D, Rezwan FI, Begemann M, Mackay D, Eggermann T. Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management. Mol Cell Probes 2015; 29(5):282-90; PMID:26070988; https://doi.org/10.1016/j.mcp.2015.05.003
  • Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, et al. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. Eur J Hum Genet 2015; 23(4):560; PMID:25005735; https://doi.org/10.1038/ejhg.2014.127
  • Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, et al. Complex tissue-specific epigenotypes in Russell-Silver syndrome associated with 11p15 ICR1 hypomethylation. Hum Mut 2014; 35(10):1211-20; PMID:25044976; https://doi.org/10.1002/humu.22623

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