Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining the methylation pattern after DNA replication. Mutations in DNMT1 have been associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). We used fibroblasts, induced pluripotent stem cells (iPS...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human molecular genetics Jg. 32; H. 21; S. 3105
Hauptverfasser:	Davis, Kasey N, Qu, Ping-Ping, Ma, Shining, Lin, Ling, Plastini, Melanie, Dahl, Niklas, Plazzi, Giuseppe, Pizza, Fabio, O'Hara, Ruth, Wong, Wing Hung, Hallmayer, Joachim, Mignot, Emmanuel, Zhang, Xianglong, Urban, Alexander E
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 17.10.2023
Schlagworte:	Cerebellar Ataxia - genetics Deafness - genetics DNA DNA (Cytosine-5-)-Methyltransferase 1 - genetics DNA (Cytosine-5-)-Methyltransferases - genetics DNA Methylation - genetics Epigenomics Humans Mutation Transcriptome - genetics
ISSN:	1460-2083, 1460-2083
Online-Zugang:	Weitere Angaben
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!