Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice

S Kinoshita, K Kojima, E Ohnishi, Y Takayama… - Frontiers in …, 2024 - frontiersin.org
Background: Epigenetic disruptions have been implicated in neurodevelopmental disorders.
NSD2 is associated with developmental delay/intellectual disability; however, its role in …

Overexpression of H3K36 methyltransferase NSD in glial cells affects brain development in Drosophila

T Kim, H Shin, B Song, C Won, H Yoshida… - Glia, 2020 - Wiley Online Library
NSD1 is a histone methyltransferase that methylates the lysine 36 at histone H3. NSD
duplication is associated with short stature, microcephaly, intellectual disability, and …

[HTML][HTML] Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities

Y Zheng, C Zhao, Q Song, L Xu, B Zhang, G Hu… - Cell Reports, 2023 - cell.com
Appropriate histone modifications emerge as essential cell fate regulators of neuronal
identities across neocortical areas and layers. Here we showed that NSD1, the …

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 …

Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature

BI Laufer, JA Gomez, JM Jianu, JM LaSalle - Epigenetics & chromatin, 2021 - Springer
Background Down syndrome (DS) is characterized by a genome-wide profile of differential
DNA methylation that is skewed towards hypermethylation in most tissues, including brain …

Single substitution in H3. 3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

S Khazaei, CCL Chen, AF Andrade, N Kabir… - Cell, 2023 - cell.com
Germline histone H3. 3 amino acid substitutions, including H3. 3G34R/V, cause severe
neurodevelopmental syndromes. To understand how these mutations impact brain …

NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing

K Shirane, F Miura, T Ito, MC Lorincz - Nature genetics, 2020 - nature.com
De novo DNA methylation (DNAme) in mammalian germ cells is dependent on DNMT3A
and DNMT3L. However, oocytes and spermatozoa show distinct patterns of DNAme. In …

Global hypermethylation in fetal cortex of Down syndrome due to DNMT3L overexpression

J Lu, M Mccarter, G Lian, G Esposito… - Human molecular …, 2016 - academic.oup.com
Down syndrome (DS) is caused by a triplication of chromosome 21 (HSA21). Increased
oxidative stress, decreased neurogenesis and synaptic dysfunction from HSA21 gene …

Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells

G Wei, X Deng, S Agarwal, S Iwase, C Disteche… - Journal of Molecular …, 2016 - Springer
The X-linked lysine (K)-specific demethylase 5C (KDM5C) gene plays an important role in
brain development and behavior. It encodes a histone demethylase that is involved in gene …

The H3K36me2 methyltransferase NSD1 modulates H3K27ac at active enhancers to safeguard gene expression

Y Fang, Y Tang, Y Zhang, Y Pan, J Jia… - Nucleic acids …, 2021 - academic.oup.com
Epigenetics, especially histone marks, functions beyond the DNA sequences to regulate
gene expression. Depletion of NSD1, which catalyzes H3K36me2, leads to both up-and …