Cellular and molecular functions of SETD2 in the central nervous system

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review

(2023) Yanqing Zhang et al.   Frontiers in Genetics

Epigenotype-genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

(2023) Sunwoo Lee et al.   HUMAN MOLECULAR GENETICS

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

(2023) Alejandro Parra et al.   Genes

A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy

(2023) Yuanyuan Wu et al.   Frontiers in Genetics

SMYD5 catalyzes histone H3 lysine 36 trimethylation at promoters

(2022) Yanjun Zhang et al.   Nature Communications

The role of histone H3K36me3 writers, readers and erasers in maintaining genome stability

(2022) Asmita Sharda et al.   DNA REPAIR

The histone methyltransferase SETD2 negatively regulates cell size

(2022) Thom M. Molenaar et al.   JOURNAL OF CELL SCIENCE

SETD2 transcriptional control of ATG14L/S isoforms regulates autophagosome–lysosome fusion

(2022) Patricia González-Rodríguez et al.   Cell Death & Disease

Alterations in Cerebellar Microtubule Cytoskeletal Network in a ValproicAcid-Induced Rat Model of Autism Spectrum Disorders

(2022) Magdalena Gąssowska-Dobrowolska et al.   Biomedicines

Abnormal neocortex arealization and Sotos-like syndrome–associated behavior in Setd2 mutant mice

(2021) Lichao Xu et al.   Science Advances

The methyltransferase SETD2 couples transcription and splicing by engaging mRNA processing factors through its SHI domain

(2021) Saikat Bhattacharya et al.   Nature Communications

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders

(2021) Meilin Chen et al.   European Journal of Medical Genetics

Histone variants at a glance

(2021) Paul B. Talbert et al.   JOURNAL OF CELL SCIENCE

Methylation of histone H3 at lysine 37 by Set1 and Set2 prevents spurious DNA replication

(2021) Helena Santos-Rosa et al.   MOLECULAR CELL

Cryo-EM structure of SETD2/Set2 methyltransferase bound to a nucleosome containing oncohistone mutations

(2021) Yingying Liu et al.   Cell Discovery

Neuronal SETD2 activity links microtubule methylation to an anxiety-like phenotype in mice

(2021) Matthias Koenning et al.   BRAIN

Loosening chromatin and dysregulated transcription: a perspective on cryptic transcription during mammalian aging

(2021) Brenna S McCauley et al.   Briefings in Functional Genomics

Molecular determinants for α-tubulin methylation by SETD2

(2021) Sarah Kearns et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chromatin-mediated alternative splicing regulates cocaine-reward behavior

(2021) Song-Jun Xu et al.   NEURON

SETD2-mediated H3K14 trimethylation promotes ATR activation and stalled replication fork restart in response to DNA replication stress

(2021) Qian Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-TubK40me3 is required for neuronal polarization and migration by promoting microtubule formation

(2021) Xuan Xie et al.   Nature Communications

A single–cell type transcriptomics map of human tissues

(2021) Max Karlsson et al.   Science Advances

Atypical genomic cortical patterning in autism with poor early language outcome

(2021) Michael V. Lombardo et al.   Science Advances

Connectivity alterations in autism reflect functional idiosyncrasy

(2021) Oualid Benkarim et al.   Communications Biology

An atlas of the protein-coding genes in the human, pig, and mouse brain

(2020) Evelina Sjöstedt et al.   SCIENCE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

FMRP Control of Ribosome Translocation Promotes Chromatin Modifications and Alternative Splicing of Neuronal Genes Linked to Autism

(2020) Sneha Shah et al.   Cell Reports

Genotype–phenotype correlation at codon 1740 of SETD2

(2020) Rachel Rabin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SETD2 Restricts Prostate Cancer Metastasis by Integrating EZH2 and AMPK Signaling Pathways

(2020) Huairui Yuan et al.   CANCER CELL

Evaluation of post-translational modifications in histone proteins: A review on histone modification defects in developmental and neurological disorders

(2020) Shahin Ramazi et al.   JOURNAL OF BIOSCIENCES

Regulation of SETD2 stability is important for the fidelity of H3K36me3 deposition

(2020) Saikat Bhattacharya et al.   Epigenetics & Chromatin

The Huntingtin-interacting protein SETD2/HYPB is an actin lysine methyltransferase

(2020) Riyad N. H. Seervai et al.   Science Advances

Sequence specificity analysis of the SETD2 protein lysine methyltransferase and discovery of a SETD2 super-substrate

(2020) Maren Kirstin Schuhmacher et al.   Communications Biology

A case of Luscan-Lumish syndrome: Possible involvement of enhanced GH signaling

(2020) Kentaro Suda et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Histone H3 trimethylation at lysine 36 guides m6A RNA modification co-transcriptionally

(2019) Huilin Huang et al.   NATURE

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

(2019) Daniel N. Weinberg et al.   NATURE

SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring

(2019) Alessandro Sessa et al.   NEURON

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

(2019) Pauline Marzin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

(2018) Maartje C. van Rij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SETD2 Haploinsufficiency for Microtubule Methylation is an Early Driver of Genomic Instability in Renal Cell Carcinoma

(2018) Yun Chen Chiang et al.   CANCER RESEARCH

Epigenetic tools (The Writers, The Readers and The Erasers) and their implications in cancer therapy

(2018) Subhankar Biswas et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

H3K14me3 genomic distributions and its regulation by KDM4 family demethylases

(2018) Bin Zhao et al.   CELL RESEARCH

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

(2018) Patricia Heyn et al.   NATURE GENETICS

Histone methyltransferase SETD2 modulates alternative splicing to inhibit intestinal tumorigenesis

(2017) Huairui Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Intragenic DNA methylation prevents spurious transcription initiation

(2017) Francesco Neri et al.   NATURE

Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder

(2017) Tianjin Shen et al.   NUCLEIC ACIDS RESEARCH

MRG15-mediated tethering of PALB2 to unperturbed chromatin protects active genes from genotoxic stress

(2017) Jean-Yves Bleuyard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Histone posttranslational modifications predict specific alternative exon subtypes in mammalian brain

(2017) Qiwen Hu et al.   PLoS Computational Biology

Dual Chromatin and Cytoskeletal Remodeling by SETD2

(2016) In Young Park et al.   CELL

Molecular basis for oncohistone H3 recognition by SETD2 methyltransferase

(2016) Shuang Yang et al.   GENES & DEVELOPMENT

SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

(2016) Camille Tlemsani et al.   JOURNAL OF MEDICAL GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

SPOP-containing complex regulates SETD2 stability and H3K36me3-coupled alternative splicing

(2016) Kun Zhu et al.   NUCLEIC ACIDS RESEARCH

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

(2016) Susan J. Lindsay et al.   Frontiers in Neuroanatomy

The Meiotic Recombination Activator PRDM9 Trimethylates Both H3K36 and H3K4 at Recombination Hotspots In Vivo

(2016) Natalie R. Powers et al.   PLoS Genetics

Inhibiting WEE1 Selectively Kills Histone H3K36me3-Deficient Cancers by dNTP Starvation

(2015) Sophia X. Pfister et al.   CANCER CELL

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

(2015) Orly Reiner et al.   JOURNAL OF NEUROCHEMISTRY

Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation

(2015) Tuncay Baubec et al.   NATURE

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clear cell renal cell carcinoma

(2015) Wei Xiang et al.   Oncotarget

Mutations inSETD2cause a novel overgrowth condition

(2014) Armelle Luscan et al.   JOURNAL OF MEDICAL GENETICS

BS69/ZMYND11 Reads and Connects Histone H3.3 Lysine 36 Trimethylation-Decorated Chromatin to Regulated Pre-mRNA Processing

(2014) Rui Guo et al.   MOLECULAR CELL

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

SETD2-Dependent Histone H3K36 Trimethylation Is Required for Homologous Recombination Repair and Genome Stability

(2014) Sophia X. Pfister et al.   Cell Reports

SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint

(2014) Sílvia Carvalho et al.   eLife

The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα

(2013) Feng Li et al.   CELL

Protocadherin α (PCDHA) as a novel susceptibility gene for autism

(2013) Ayyappan Anitha et al.   JOURNAL OF PSYCHIATRY & NEUROSCIENCE

Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription

(2013) Sílvia Carvalho et al.   NUCLEIC ACIDS RESEARCH

Huntingtin Acts Non Cell-Autonomously on Hippocampal Neurogenesis and Controls Anxiety-Related Behaviors in Adult Mouse

(2013) Patrick Pla et al.   PLoS One

Neudesin is involved in anxiety behavior: structural and neurochemical correlates

(2013) Ashley Novais et al.   Frontiers in Behavioral Neuroscience

Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders

(2013) Boryana S Stamova et al.   Molecular Autism

Set2 mediated H3 lysine 36 methylation: regulation of transcription elongation and implications in organismal development

(2013) Swaminathan Venkatesh et al.   Wiley Interdisciplinary Reviews-Developmental Biology

An H3K36 Methylation-Engaging Tudor Motif of Polycomb-like Proteins Mediates PRC2 Complex Targeting

(2012) Ling Cai et al.   MOLECULAR CELL

Polycomb PHF19 binds H3K36me3 and recruits PRC2 and demethylase NO66 to embryonic stem cell genes during differentiation

(2012) Gerard L Brien et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1

(2012) Catherine A Musselman et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Psip1/Ledgf p52 Binds Methylated Histone H3K36 and Splicing Factors and Contributes to the Regulation of Alternative Splicing

(2012) Madapura M. Pradeepa et al.   PLoS Genetics

Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatin

(2011) S. Chantalat et al.   GENOME RESEARCH

Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36

(2011) Sérgio Fernandes de Almeida et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Pre-mRNA splicing is a determinant of histone H3K36 methylation

(2011) S. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation

(2010) Arunkumar Dhayalan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling

(2010) M. Hu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of Alternative Splicing by Histone Modifications

(2010) R. F. Luco et al.   SCIENCE

Heterogeneous Nuclear Ribonucleoprotein L Is a Subunit of Human KMT3a/Set2 Complex Required for H3 Lys-36 Trimethylation Activityin Vivo

(2009) Wen Yuan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate

(2009) Yan Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes

(2008) Ping Xie et al.   CELLULAR SIGNALLING

Mouse models of DNA double-strand break repair and neurological disease

(2008) Pierre-Olivier Frappart et al.   DNA REPAIR