Deciphering the role of the maternal-effect gene PADI6 in the etiology of genomic imprinting defects

  • 3 Years 2023/2026
  • 160.000€ Total Award

The majority of the Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) cases are caused by DNA methylation abnormalities of specific genes called imprinted. These errors occur in the gametes or early embryo and their cause is unknown. Recent experimental evidences indicate that genetic mutations carried by healthy mothers may predispose to the methylation abnormalities of the progeny. In order to understand how these maternal genes affects the developmental competence and DNA methylation of the embryo, we have generated a transgenic mouse lines carrying the mutation that we have found in the mother of two children affected by BWS. Molecular analysis of this animal model will reveal new targets and mechanisms for therapeutic intervention in imprinting disorders that may improve human health in the medium-long term.

Il tuo browser non è più supportato da Microsoft, esegui l'upgrade a Microsoft Edge per visualizzare il sito.