Article
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.
eLife - 31 Aug 2021
Luperchio Teresa Romeo, Boukas Leandros, Zhang Li, Pilarowski Genay, Jiang Jenny, Kalinousky Allison, Hansen Kasper D, Bjornsson Hans T
Abstract excerpt
Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a different causative gene, there are shared disease manifestations. We hypothesize that this phenotypic convergence is a consequence of shared epigenetic alterations. To identify such shared alterations, we interrogate chromatin (ATAC-seq) and expression (RNA-seq) states in B cells from three MDEM mouse models (Kabuki [KS] type 1 and 2 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.