Histone lysine methyltransferases in biology and disease

D Husmann, O Gozani - Nature structural & molecular biology, 2019 - nature.com
The precise temporal and spatial coordination of histone lysine methylation dynamics across
the epigenome regulates virtually all DNA-templated processes. A large number of histone …

Mechanisms of DNA methylation regulatory function and crosstalk with histone lysine methylation

BM Tibben, SB Rothbart - Journal of Molecular Biology, 2024 - Elsevier
DNA methylation is a well-studied epigenetic modification that has key roles in regulating
gene expression, maintaining genome integrity, and determining cell fate. Precisely how …

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

DR Murdock, H Dai, LC Burrage… - The Journal of …, 2021 - Am Soc Clin Investig
BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …

H3K36 methyltransferase NSD1 protects against osteoarthritis through regulating chondrocyte differentiation and cartilage homeostasis

R Shao, J Suo, Z Zhang, M Kong, Y Ma… - Cell Death & …, 2024 - nature.com
Osteoarthritis (OA) is one of the most common joint diseases, there are no effective disease-
modifying drugs, and the pathological mechanisms of OA need further investigation. Here …

Recent advances in nuclear receptor-binding SET domain 2 (NSD2) inhibitors: An update and perspectives

L Zhang, X Zha - European Journal of Medicinal Chemistry, 2023 - Elsevier
Nuclear receptor-binding SET domain 2 (NSD2) is a histone lysine methyltransferase
(HKMTase), which is mainly responsible for the di-methylation of lysine residues on …

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr… - Genetics in …, 2021 - nature.com
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a
gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical …

Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation

GA Shipman, R Padilla, C Horth, B Hu, E Bareke… - Genome biology, 2024 - Springer
Background Methylation of histone 3 lysine 36 (H3K36me) has emerged as an essential
epigenetic component for the faithful regulation of gene expression. Despite its importance …

The NSD2/WHSC1/MMSET methyltransferase prevents cellular senescence‐associated epigenomic remodeling

H Tanaka, T Igata, K Etoh, T Koga, S Takebayashi… - Aging cell, 2020 - Wiley Online Library
Senescent cells may possess the intrinsic programs of metabolic and epigenomic
remodeling, but the molecular mechanism remains to be clarified. Using an RNAi‐based …

Wolf-Hirschhorn syndrome: clinical and genetic study of 7 new cases, and mini review

EC Gavril, AC Luca, AS Curpan, R Popescu… - Children, 2021 - mdpi.com
Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is
characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability …

The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities

FD Ritchie, SB Lizarraga - Frontiers in Neuroscience, 2023 - frontiersin.org
Brain size is controlled by several factors during neuronal development, including neural
progenitor proliferation, neuronal arborization, gliogenesis, cell death, and synaptogenesis …