KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
Meghna Singh, Sarah J. Spendlove, Angela Wei, Leroy Bondhus, Aileen A. Nava, Francisca N. de Luna Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A. Garcia, Valerie A. Arboleda
This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.
Human Genetics · Oct 20, 2023Peer-reviewedGenomics