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

KN Davis, PP Qu, S Ma, L Lin, M Plastini… - Human molecular …, 2023 - academic.oup.com
Abstract DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining
the methylation pattern after DNA replication. Mutations in DNMT1 have been associated …

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

KD Kernohan, L Cigana Schenkel, L Huang, A Smith… - Clinical …, 2016 - Springer
Background DNA methylation is an essential epigenetic mark, controlled by DNA
methyltransferase (DNMT) proteins, which regulates chromatin structure and gene …

Role of DNMT3B in the regulation of early neural and neural crest specifiers

K Martins-Taylor, DI Schroeder, JM LaSalle… - Epigenetics, 2012 - Taylor & Francis
The de novo DNA methyltransferase DNMT3B functions in establishing DNA methylation
patterns during development. DNMT3B missense mutations cause immunodeficiency …

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

A Maresca, M Zaffagnini, L Caporali, V Carelli… - Frontiers in …, 2015 - frontiersin.org
Autosomal dominant cerebellar ataxia-deafness and narcolepsy (ADCA-DN) and Hereditary
sensory neuropathy with dementia and hearing loss (HSN1E) are two rare, overlapping …

DNMT3A haploinsufficiency results in behavioral deficits and global epigenomic dysregulation shared across neurodevelopmental disorders

DL Christian, DY Wu, JR Martin, JR Moore, YR Liu… - Cell Reports, 2020 - cell.com
Mutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and
related disorders, but how these mutations disrupt nervous system function is unknown …

Role of DNMTs in the Brain

CB Yildiz, G Zimmer-Bensch - DNA Methyltransferases-Role and Function, 2022 - Springer
DNA methyltransferases (DNMTs) are widely expressed in the brain, dictating the
transcriptional activity of genes through various epigenetic mechanisms. Functional …

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

MA Levy, R Relator, H McConkey… - Human …, 2022 - Wiley Online Library
An expanding range of genetic syndromes are characterized by genome‐wide disruptions in
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …

Neuronal DNA methyltransferases: epigenetic mediators between synaptic activity and gene expression?

G Bayraktar, MR Kreutz - The Neuroscientist, 2018 - journals.sagepub.com
DNMT3A and 3B are the main de novo DNA methyltransferases (DNMTs) in the brain that
introduce new methylation marks to non-methylated DNA in postmitotic neurons. DNA …

NSD1 deposits histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons

N Hamagami, DY Wu, AW Clemens, SA Nettles, A Li… - Molecular cell, 2023 - cell.com
During postnatal development, the DNA methyltransferase DNMT3A deposits high levels of
non-CG cytosine methylation in neurons. This methylation is critical for transcriptional …

Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system

J Feng, H Chang, E Li, G Fan - Journal of neuroscience …, 2005 - Wiley Online Library
To explore the role of DNA methylation in the brain, we examined the expression pattern of
de novo DNA methyltransferases Dnmt3a and Dnmt3b in the mouse central nervous system …