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

Human molecular genetics - 17 Oct 2023

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

Abstract excerpt

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 (iPSCs) and induced neurons (iNs) generated from patients with ADCA-DN and controls, to explore the epigenomic and...

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PMID: 37584462
DOI: 10.1093/hmg/ddad123
PMCID: PMC10586194

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