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https://www.readbyqxmd.com/read/29320702/repression-of-adipose-tissue-fibrosis-through-a-prdm16-gtf2ird1-complex-improves-systemic-glucose-homeostasis
#1
Yutaka Hasegawa, Kenji Ikeda, Yong Chen, Diana L Alba, Daniel Stifler, Kosaku Shinoda, Takashi Hosono, Pema Maretich, Yangyu Yang, Yasushi Ishigaki, Jingyi Chi, Paul Cohen, Suneil K Koliwad, Shingo Kajimura
Adipose tissue fibrosis is a hallmark of malfunction that is linked to insulin resistance and type 2 diabetes; however, what regulates this process remains unclear. Here we show that the PRDM16 transcriptional complex, a dominant activator of brown/beige adipocyte development, potently represses adipose tissue fibrosis in an uncoupling protein 1 (UCP1)-independent manner. By purifying the PRDM16 complex, we identified GTF2IRD1, a member of the TFII-I family of DNA-binding proteins, as a cold-inducible transcription factor that mediates the repressive action of the PRDM16 complex on fibrosis...
January 9, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29317598/enriched-expression-of-genes-associated-with-autism-spectrum-disorders-in-human-inhibitory-neurons
#2
Ping Wang, Dejian Zhao, Herbert M Lachman, Deyou Zheng
Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The affected neural circuits and cell types remain unclear and may vary at different developmental stages. By analyzing multiple sets of human single cell transcriptome profiles, we found that ASD candidates showed relatively enriched gene expression in neurons, especially in inhibitory neurons. ASD candidates were also more likely to be the hubs of the co-expression gene module that is highly expressed in inhibitory neurons, a feature not detected for excitatory neurons...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29275289/role-of-fluoride-induced-histone-trimethylation-in-development-of-skeletal-fluorosis
#3
Atul P Daiwile, Saravanadevi Sivanesan, Prashant Tarale, Pravin K Naoghare, Amit Bafana, Devendra Parmar, Krishnamurthi Kannan
Chronic exposure to fluoride has been associated with the development of skeletal fluorosis. Limited reports are available on fluoride induced histone modification. However, the role of histone modification in the pathogenesis of skeletal fluorosis is not investigated. In the present study, we have investigated the role of fluoride induced histone modification on fluorosis development using human osteosarcoma (HOS) cell line. The expression of histone methyltransferases (EHMT1 and EHZ2) and level of global histone trimethylation (H3K9 and H3K27) have been assessed and observed to be increased significantly after fluoride exposure (8 mg/L)...
December 17, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/29229671/h3s10ph-broadly-marks-early-replicating-domains-in-interphase-escs-and-shows-reciprocal-antagonism-with-h3k9me2
#4
Carol C L Chen, Preeti Goyal, Mohammad M Karimi, Marie H Abildgaard, Hiroshi Kimura, Matthew C Lorincz
Phosphorylation of histone H3 at serine 10 (H3S10ph) by Aurora kinases plays an important role in mitosis; however, H3S10ph also marks regulatory regions of inducible genes in interphase mammalian cells, implicating mitosis-independent functions. Using the fluorescent ubiquitin-mediated cell cycle indicator (FUCCI), we found that 30% of the genome in interphase mouse embryonic stem cells (ESCs) is marked with H3S10ph. H3S10ph broadly demarcates gene-rich regions in G1 and is positively correlated with domains of early DNA replication timing (RT) but negatively correlated with H3K9me2 and lamin-associated domains (LADs)...
December 11, 2017: Genome Research
https://www.readbyqxmd.com/read/29228531/kleefstra-syndrome-the-first-case-report-from-iran
#5
Mehrdad Noruzinia, Mohammad Ahmadvand, Oranous Bashti, Ahmad Reza Salehi Chaleshtori
Kleefstra Syndrome is characterized by severe mental retardation, brachycephaly, microcephaly, epileptic seizures, distinct facial features, and infantile weak muscle tone and heart defects. Deletion of EHMT1 is the main player in 75% of cases. Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion patients and those with an intragenic EHMT1 mutation in Kleefstra Syndrome, genetic characterization of patients with clinical symptoms of such spectrum is desirable...
October 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29199022/ctcf-mediated-chromatin-loops-between-promoter-and-gene-body-regulate-alternative-splicing-across-individuals
#6
Mariana Ruiz-Velasco, Manjeet Kumar, Mang Ching Lai, Pooja Bhat, Ana Belen Solis-Pinson, Alejandro Reyes, Stefan Kleinsorg, Kyung-Min Noh, Toby J Gibson, Judith B Zaugg
The CCCTC-binding factor (CTCF) is known to establish long-range DNA contacts that alter the three-dimensional architecture of chromatin, but how the presence of CTCF influences nearby gene expression is still poorly understood. Here, we analyze CTCF chromatin immunoprecipitation sequencing, RNA sequencing, and Hi-C data, together with genotypes from a healthy human cohort, and measure statistical associations between inter-individual variability in CTCF binding and alternative exon usage. We demonstrate that CTCF-mediated chromatin loops between promoters and intragenic regions are prevalent and that when exons are in physical proximity with their promoters, CTCF binding correlates with exon inclusion in spliced mRNA...
November 24, 2017: Cell Systems
https://www.readbyqxmd.com/read/29192276/protein-lysine-methyltransferases-g9a-and-glp1-promote-responses-to-dna-damage
#7
Vasudeva Ginjala, Lizahira Rodriguez-Colon, Bratati Ganguly, Prawallika Gangidi, Paul Gallina, Husam Al-Hraishawi, Atul Kulkarni, Jeremy Tang, Jinesh Gheeya, Srilatha Simhadri, Ming Yao, Bing Xia, Shridar Ganesan
Upon induction of DNA breaks, ATM activation leads to a cascade of local chromatin modifications that promote efficient recruitment of DNA repair proteins. Errors in this DNA repair pathway lead to genomic instability and cancer predisposition. Here, we show that the protein lysine methyltransferase G9a (also known as EHMT2) and GLP1 (also known as EHMT1) are critical components of the DNA repair pathway. G9a and GLP1 rapidly localizes to DNA breaks, with GLP1 localization being dependent on G9a. ATM phosphorylation of G9a on serine 569 is required for its recruitment to DNA breaks...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29188614/-clinical-and-genetic-analysis-of-a-boy-with-9q34-3-microdeletion-syndrome
#8
Dong Wu, Tao Li, Hongdan Wang, Weili Shi, Qiaofang Hou, Hui Zhang, Tao Wang, Yanli Yang, Shixiu Liao
OBJECTIVE: To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations. METHODS: The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#9
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29069077/functional-convergence-of-histone-methyltransferases-ehmt1-and-kmt2c-involved-in-intellectual-disability-and-autism-spectrum-disorder
#10
Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28905115/clinical-application-of-snp-array-analysis-in-fetuses-with-ventricular-septal-defects-and-normal-karyotypes
#11
Fang Fu, Qiong Deng, Ting-Ying Lei, Ru Li, Xiang-Yi Jing, Xin Yang, Can Liao
PURPOSE: The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. METHODS: We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth...
November 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28742076/altered-neurite-morphology-and-cholinergic-function-of-induced-pluripotent-stem-cell-derived-neurons-from-a-patient-with-kleefstra-syndrome-and-autism
#12
J Nagy, J Kobolák, S Berzsenyi, Z Ábrahám, H X Avci, I Bock, Z Bekes, B Hodoscsek, A Chandrasekaran, A Téglási, P Dezső, B Koványi, E T Vörös, L Fodor, T Szél, K Németh, A Balázs, A Dinnyés, B Lendvai, G Lévay, V Román
The aim of the present study was to establish an in vitro Kleefstra syndrome (KS) disease model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. Patient specific hiPSCs generated from peripheral blood mononuclear cells of the KS-ASD patient were differentiated into post-mitotic cortical neurons. Lower levels of EHMT1 mRNA as well as protein expression were confirmed in these cells...
July 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28739157/cycloalkane-analogues-of-sinefungin-as-ehmt1-2-inhibitors
#13
Qing Liu, Xiaoqing Cai, Dehua Yang, Yi Chen, Yafang Wang, Liming Shao, Ming-Wei Wang
A series of cycloalkyl substituted analogues of the natural product sinefungin lacking the amino-acid moiety was designed and synthesized. Two stereoisomers (6-R and 6-S) were separated and their bioactivities examined against EHMT1/2. Of which, compound 14d showed an inhibitory activity against EHMT1/2 (88.9%, IC50=21.8μM for EHMT1 and 77.6%, IC50=39.6μM for EHMT2, respectively) similar to that of sinefungin (100.0%, IC50=28.4μM for EHMT1 and 79.5%, IC50=30.1μM for EHMT2, respectively). Further studies against other methyltransferases such as PRMT1 showed no activity except that 12d displayed about 20% inhibition...
September 1, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28608127/downregulation-of-histone-methyltransferase-ehmt2-in-cd4-t-cells-may-protect-htlv-1-infected-individuals-against-ham-tsp-development
#14
Camila Schoueri Colaço, Adriano Reis de Matos, Martha Silva Estrêla, Maurício Cristiano Rocha-Júnior, Kátia Kaori Otaguiri, Evandra Strazza Rodrigues, Osvaldo Massaiti Takayanagui, Dimas Tadeu Covas, Simone Kashima, Fabio Pittella Silva, Rodrigo Haddad
Approximately 5% of human T-cell leukemia virus type 1 (HTLV-1)-infected individuals will develop one of the HTLV-1-related diseases, such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) or adult T-cell leukemia. However, the mechanisms responsible for the appearance of symptoms have not been fully clarified. It is believed that viral factors, host genetic and epigenetic mechanisms are implicated in this process. Studies have shown the involvement of histone methyltransferases in retrovirus infection, but no study observed their expression in HTLV-1-infected patients...
June 12, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28596979/the-expanding-role-of-the-ehmt2-g9a-complex-in-neurodevelopment
#15
COMMENT
Steven J Deimling, Jonathan B Olsen, Vincent Tropepe
Epigenetic regulators play a crucial role in neurodevelopment. One such epigenetic complex, Ehmt1/2 (G9a/GLP), is essential for repressing gene transcription by methylating H3K9 in a highly tissue- and temporal-specific manner. Recently, data has emerged suggesting that this complex plays additional roles in regulating the activity of numerous other non-histone proteins. While much is known about the downstream effects of Ehmt1/2 function, evidence is only beginning to come to light suggesting the control of Ehmt1/2 function may be, at least in part, due to context-dependent binding partners...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28361100/a-novel-de-novo-frameshift-deletion-in-ehmt1-in-a-patient-with-kleefstra-syndrome-results-in-decreased-h3k9-dimethylation
#16
Patrick R Blackburn, Monique Williams, Margot A Cousin, Nicole J Boczek, Geoffrey J Beek, Gwen A Lomberk, Raul A Urrutia, Dusica Babovic-Vuksanovic, Eric W Klee
BACKGROUND: Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1, GLP). EHMT1 (MIM# 607001) encodes a histone methyltransferase that heterodimerizes with EHMT2 (also known as G9a, MIM# 604599), which together are responsible for mono- and dimethylation of H3 lysine 9 (H3K9me1 and -me2), resulting in transcriptional repression of target genes. METHODS: This report describes an 18-year-old woman with intellectual disability, severely limited speech, hypotonia, microcephaly, and facial dysmorphisms, who was found to have a novel de novo single-base frameshift deletion in EHMT1...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28361099/a-de-novo-splice-site-mutation-in-ehmt1-resulting-in-kleefstra-syndrome-with-pharmacogenomics-screening-and-behavior-therapy-for-regressive-behaviors
#17
Amit Kumar Mitra, Jessica Dodge, Jody Van Ness, Israel Sokeye, Brian Van Ness
BACKGROUND: Kleefstra syndrome (KS) is a rare autosomal dominant developmental disability, caused by microdeletions or intragenic mutations within the epigenetic regulator gene EHMT1 (euchromatic histone lysine N-methyltransferase 1). In addition to common features of autism, young adult regressive behaviors have been reported. However, the genetic downstream effects of the reported deletions or mutations on KS phenotype have not yet been completely explored. While genetic backgrounds affecting drug metabolism can have a profound effect on therapeutic interventions, pharmacogenomic variations are seldom considered in directing psychotropic therapies...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28071689/haploinsufficiency-of-ehmt1-improves-pattern-separation-and-increases-hippocampal-cell-proliferation
#18
Marco Benevento, Charlotte A Oomen, Alexa E Horner, Houshang Amiri, Tessa Jacobs, Charlotte Pauwels, Monica Frega, Tjitske Kleefstra, Maksym V Kopanitsa, Seth G N Grant, Timothy J Bussey, Lisa M Saksida, Catharina E E M Van der Zee, Hans van Bokhoven, Jeffrey C Glennon, Nael Nadif Kasri
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1(+/-) heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1(+/-) knockout mice were impaired at fear extinction and novel- and spatial object recognition...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28057753/a-novel-kleefstra-syndrome-associated-variant-that-affects-the-conserved-tplx-motif-within-the-ankyrin-repeat-of-ehmt1-leads-to-abnormal-protein-folding
#19
Patrick R Blackburn, Alexander Tischer, Michael T Zimmermann, Jennifer L Kemppainen, Sujatha Sastry, Amy E Knight Johnson, Margot A Cousin, Nicole J Boczek, Gavin Oliver, Vinod K Misra, Ralitza H Gavrilova, Gwen Lomberk, Matthew Auton, Raul Urrutia, Eric W Klee
Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and dysmorphic facial features with hypertelorism, synophrys, macroglossia, protruding tongue, and prognathism. Only a few cases of de novo missense mutations in EHMT1 giving rise to KS have been described...
March 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27966372/increased-first-trimester-nuchal-translucency-associated-with-a-dicentric-chromosome-and-9q34-3-microdeletion-syndrome
#20
Lv-Yin Huang, Yu Yang, Ping He, Dong-Zhi Li
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype...
April 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
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