The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory

Bi-allelic hypomorphic mutations in DNMT3B disrupt DNA methyltransferase activity and lead to immunodeficiency, centromeric instability, facial anomalies syndrome, type 1 (ICF1). Although several ICF1 phenotypes have been linked to abnormally hypomethylated repetitive regions, the unique genomic reg...

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Detalles Bibliográficos
Autores principales: Poondi Krishnan, Varsha, Morone, Barbara, Toubiana, Shir, Krzak, Monika, Fioriniello, Salvatore, Della Ragione, Floriana, Strazzullo, Maria, Angelini, Claudia, Selig, Sara, Matarazzo, Maria R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069469/
https://www.ncbi.nlm.nih.gov/pubmed/36828588
http://dx.doi.org/10.1101/gr.276986.122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069469/
https://www.ncbi.nlm.nih.gov/pubmed/36828588
http://dx.doi.org/10.1101/gr.276986.122

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