13/11-2023 - Andrea RICCIO : Maternal-effect genes and imprinting disorders

06 - Novembre - 2023


Bâtiment Kourilsky - 11h–12h

Salle des Conférences (Rez de Chaussée),

184 rue du Faubourg Saint-Antoine, Paris



Maternal-effect genes and imprinting disorders


Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania “Luigi Vanvitelli”, Caserta, Italy.
Institute of Genetics and Biophysics (IGB) “Adriano Buzzati-Traverso”, Consiglio Nazionale delle Ricerche (CNR), Naples, Italy

invité par Equipe de Irène NETCHINE

(Equipe Irène NETCHINE (irène.netchine@aphp.fr))


Genomic imprinting is the gamete of origin-dependent epigenetic marking and expression of genes, and is required for normal development. In humans, its deregulation affects growth, metabolism and neurological functions. Imprinting disorders are associated with single or multi-locus DNA methylation abnormalities, which in turn can be traced back to genetic variants occurring in cis or in trans. In particular, maternal-effect variants of the genes encoding for members of the Sub-Cortical Maternal Complex (SCMC) are associated with multi-locus imprinting disturbance (MLID). However, how the SCMC controls the DNA methylation required to regulate imprinting remains poorly defined. To address this issue, we generated a mouse line carrying a Padi6 missense variant that had been identified in the mother of two sisters affected by Beckwith-Wiedemann syndrome and MLID. We found that if homozygous in female mice this variant resulted in interruption of embryo development at the 2-cell stage. Single-cell DNA methylation and RNA analyses demonstrated genomic hypermethylation, down-regulation of zygotic genome activation (ZGA) genes and up-regulation of maternal decay genes in 2-cell embryos from homozygous females. In addition, immunofluorescence analysis showed abnormal localization of DNMT1 and UHRF1 in mutant oocytes and zygotes. Taken together, this study is consistent with a model in which PADI6 and the SCMC are necessary for cytoplasmic localization of DNMT1 that in turn is crucial for the genome-wide DNA demethylation occurring during the maternal to zygotic transition. These results may be useful for understanding the mechanisms underlying the origin of imprinting disturbances.


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