Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

Author:

Abi Habib Walid12ORCID,Brioude Frédéric12ORCID,Azzi Salah12,Rossignol Sylvie3,Linglart Agnès45,Sobrier Marie-Laure1,Giabicani Éloïse12ORCID,Steunou Virginie1,Harbison Madeleine D.6ORCID,Le Bouc Yves12,Netchine Irène12

Affiliation:

1. Sorbonne Université, INSERM, UMRS 938, Centre de Recherche Saint-Antoine, Paris, France.

2. AP-HP, Hôpital Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, Paris, France.

3. Service de Génétique Médicale, Centre de Référence pour les Anomalies du Développement (FECLAD), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

4. Endocrinology and Diabetology for Children and Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Bicêtre Paris Sud, AP-HP, Le Kremlin-Bicêtre, France.

5. INSERM U986, INSERM, Le Kremlin-Bicêtre, France.

6. Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Abstract

Temple or Silver-Russell syndrome? We reveal the molecular reasons for the clinical resemblance between these two syndromes.

Funder

FP7 People: Marie-Curie Actions

Agence Nationale de la Recherche

Institut national de la santé et de la recherche médicale

Novo Nordisk

Université Pierre et Marie Curie

Société Française d’Endocrinologie et Diabétologie Pédiatrique

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference40 articles.

1. Genomic imprinting in development, growth, behavior and stem cells

2. Imprinting disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci;Eggermann T.;Clin. Epigenetics,2015

3. Regulatory links between imprinted genes: Evolutionary predictions and consequences;Patten M. M.;Proc. Biol. Sci.,2016

4. H19 acts as a trans regulator of the imprinted gene network controlling growth in mice;Gabory A.;Development,2009

5. H19 lncRNA controls gene expression of the imprinted gene network by recruiting MBD1;Monnier P.;Proc. Natl. Acad. Sci. U.S.A.,2013

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