Genomic imprinting
- Imprinted gene dysregulation in a Tet1 null mouse model is stochastic and variable in the germline and offspring
Summary: Methylcytosine dioxygenase TET1 is a key regulator of imprinting in both the maternal and paternal lineages, with loss resulting in hypermethylation of KvDMR, Peg1 and Peg3 ICRs in sperm and of IG-DMR and H19/Igf2 ICRs in oocytes.
- Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome
Summary: Maternal inheritance of a mutation to block RNA elongation through KvDMR1 results in an absence of DNA methylation at KvDMR1, biallelic expression of Kcnq1ot1 and suppression of maternally expressed genes.
- A reporter model to visualize imprinting stability at the Dlk1 locus during mouse development and in pluripotent cells
Summary: A Dlk1 knock-in reporter mouse reports allele- and tissue-specific Dlk1 expression in developing embryos that can be used to study changes in genomic imprinting during cellular reprogramming.
- H19 controls reactivation of the imprinted gene network during muscle regeneration
Summary: Expression of H19 regulates muscle stem cell number and controls their entry into quiescence. Absence of H19 leads to better muscle regeneration with increased expression of the IGN genes.
- De novo DNA methylation through the 5′-segment of the H19 ICR maintains its imprint during early embryogenesis
Highlighted article: In the mouse early embryo, H19 ICR imprinting is achieved through maternally inherited DNMT3A- and DNMT3L-mediated de novo methylation and requires a specific 5′ region of the locus.
- A trans-homologue interaction between reciprocally imprinted miR-127 and Rtl1 regulates placenta development
Summary: MiR-127 is an essential regulator of the paternally expressed imprinted gene Rtl1 and acts via trans-homologue interactions to regulate Rtl1 dosage and placental growth.