DNMT3B PWWP mutations cause hypermethylation of heterochromatin
Francesca Taglini, Ioannis Kafetzopoulos, Willow Rolls, Kamila Irena Musialik, Heng Yang Lee, Yujie Zhang, Mattia Marenda, Lyndsay Kerr, Hannah Finan, Cristina Rubio-Ramon, Philippe Emmanuel Gautier, Hannah Wapenaar, Dhananjay Kumar, Hazel Davidson‐Smith, Jimi C. Wills, , Duncan Sproul
This study shows that DNMT3B PWWP mutations cause hypermethylation of heterochromatin marked by H3K9me3, disrupting DNA methylation homeostasis and contributing to ICF syndrome, cancer, and aging.
EMBO Reports · Jan 30, 2024Peer-reviewedGenetics