KDM5C

Summary

Gene Symbol: KDM5C
Description: lysine demethylase 5C
Alias: DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169, lysine-specific demethylase 5C, JmjC domain-containing protein SMCX, Jumonji, AT rich interactive domain 1C (RBP2-like), Jumonji/ARID domain-containing protein 1C, Smcx homolog, X chromosome, Smcy homolog, X-linked, histone demethylase JARID1C, lysine (K)-specific demethylase 5C
Species: human

Top Publications

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
  2. ncbi Isolation and characterization of XE169, a novel human gene that escapes X-inactivation
    J Wu
    Department of Pediatrics, University of California, San Francisco 94143
    Hum Mol Genet 3:153-60. 1994
  3. pmc Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
  4. ncbi A novel mutation in JARID1C gene associated with mental retardation
    Cristina Santos
    Genetics Service, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain
    Eur J Hum Genet 14:583-6. 2006
  5. ncbi The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases
    Shigeki Iwase
    Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
    Cell 128:1077-88. 2007
  6. ncbi RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3
    Jesper Christensen
    Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark
    Cell 128:1063-76. 2007
  7. ncbi The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
    Mamta Tahiliani
    Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine and BCMP, Brigham and Women s Hospital and Harvard Medical School, 221 Longwood Avenue Boston, Massachusetts 02115, USA
    Nature 447:601-5. 2007
  8. ncbi Repression of Smad3 activity by histone demethylase SMCX/JARID1C
    Tae Dong Kim
    Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA
    Biochem Biophys Res Commun 366:563-7. 2008
  9. pmc Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
    F E Abidi
    Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    J Med Genet 45:787-93. 2008
  10. pmc Polyubiquitination of the demethylase Jhd2 controls histone methylation and gene expression
    Douglas P Mersman
    Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907, USA
    Genes Dev 23:951-62. 2009

Research Grants

  1. Jun Xu; Fiscal Year: 2016
  2. Cun Yu Wang; Fiscal Year: 2016
  3. X-linked Genes, Histone Modifications, and Behavior
    Jun Xu; Fiscal Year: 2013
  4. The Histone Demethylase SMCX/JARED1C as a Therapeutic Target for Huntington's Dis
    Leslie Michels Thompson; Fiscal Year: 2012
  5. Jenny Hsieh; Fiscal Year: 2014
  6. Haifeng Yang; Fiscal Year: 2016
  7. MOLECULAR BIOLOGY OF THE MOUSE Y CHROMOSOME
    COLIN BISHOP; Fiscal Year: 2000
  8. Roles and Mechanisms of Action of SMCX/JARID1C in Cell Biology
    ANDREW BARBERA; Fiscal Year: 2009
  9. CONTROL OF MICROVASCULAR TONE IN TRAUMATIC BRAIN INJURY
    Jose Rafols; Fiscal Year: 2008
  10. EPIGENETIC CHANGES IN FRONTAL LOBE OF SCHIZOPHRENICS
    Schahram Akbarian; Fiscal Year: 2009

Scientific Experts

Detail Information

Publications115 found, 100 shown here

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
    ..Mutations in KDM5C (previously named SMCX or JARID1C), a gene that encodes a transcriptional regulator with histone demethylase activity specific for dimethylated and ..
  2. ncbi Isolation and characterization of XE169, a novel human gene that escapes X-inactivation
    J Wu
    Department of Pediatrics, University of California, San Francisco 94143
    Hum Mol Genet 3:153-60. 1994
    Overlapping cDNA clones for a novel human X-linked gene, XE169, have been isolated and characterized. The composite cDNA sequence comprises 5910 bp (or 5901 bp) plus a poly(A) tail, with a 531 bp 5' and 696 bp 3' untranslated regions...
  3. pmc Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
    ..of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in JARID1C, including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as ..
  4. ncbi A novel mutation in JARID1C gene associated with mental retardation
    Cristina Santos
    Genetics Service, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain
    Eur J Hum Genet 14:583-6. 2006
    ..One of the latest is called Jumonji AT-rich interactive domain 1C (JARID1C)...
  5. ncbi The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases
    Shigeki Iwase
    Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
    Cell 128:1077-88. 2007
    ..We show that the X-linked mental retardation (XLMR) gene SMCX (JARID1C), which encodes a JmjC-domain protein, reversed H3K4me3 to di- and mono- but not unmethylated products...
  6. ncbi RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3
    Jesper Christensen
    Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark
    Cell 128:1063-76. 2007
    ..Here we demonstrate that the JARID1 proteins RBP2, PLU1, and SMCX are histone demethylases specific for di- and trimethylated histone 3 lysine 4 (H3K4)...
  7. ncbi The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
    Mamta Tahiliani
    Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine and BCMP, Brigham and Women s Hospital and Harvard Medical School, 221 Longwood Avenue Boston, Massachusetts 02115, USA
    Nature 447:601-5. 2007
    ..Here we show that JARID1C/SMCX, a JmjC-domain-containing protein implicated in X-linked mental retardation and epilepsy, possesses H3K4 tri-..
  8. ncbi Repression of Smad3 activity by histone demethylase SMCX/JARID1C
    Tae Dong Kim
    Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA
    Biochem Biophys Res Commun 366:563-7. 2008
    SMCX/JARID1C was recently shown to be a histone H3 lysine 4 (H3K4) demethylase. Here, we have identified an SMCX isoform that predominantly resides in the cytoplasm, but still efficiently demethylates trimethylated H3K4...
  9. pmc Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
    F E Abidi
    Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    J Med Genet 45:787-93. 2008
    Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR)...
  10. pmc Polyubiquitination of the demethylase Jhd2 controls histone methylation and gene expression
    Douglas P Mersman
    Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907, USA
    Genes Dev 23:951-62. 2009
    ..Finally, we show that human NOT4 can polyubiquitinate human JARID1C/SMCX, a homolog of Jhd2, suggesting that this is likely a conserved mechanism...
  11. pmc Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
    Sinitdhorn Rujirabanjerd
    Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
    Eur J Hum Genet 18:330-5. 2010
    ..One such gene, jumonji AT-rich interactive domain 1C (JARID1C) on Xp11.2, has been identified in families with X-linked MR (XLMR), with 18 different mutations reported to date...
  12. pmc Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
    Gillian L Dalgliesh
    Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
    Nature 463:360-3. 2010
    ..two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 ..
  13. pmc The JmjN domain of Jhd2 is important for its protein stability, and the plant homeodomain (PHD) finger mediates its chromatin association independent of H3K4 methylation
    Fu Huang
    Department of Biochemistry and Vanderbilt Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    J Biol Chem 285:24548-61. 2010
    ..We show that the S451R mutation in human SMCX (a homolog of Jhd2), which has been linked to mental retardation, and the homologous T359R mutation in Jhd2 affect ..
  14. doi A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay
    Cíntia B Santos-Rebouças
    Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil
    Neurosci Lett 498:67-71. 2011
    Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID)...
  15. ncbi A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
    A I Agulnik
    Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38103
    Hum Mol Genet 3:879-84. 1994
    A new gene, designated Smcx, was cloned from the mouse X chromosome by its homology to the Y located gene Smcy...
  16. ncbi Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 27:389. 2006
    X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this ..
  17. doi A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
    Katrin Ounap
    Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
    Eur J Med Genet 55:178-84. 2012
    Mutations in the KDM5C gene (lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX; MIM 314690) were recently associated with X-linked intellectual disability (XLID)...
  18. ncbi The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation
    S Sheardown
    Comparative Biology Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Hum Mol Genet 5:1355-60. 1996
    The Smcx gene is the first known example of a non-pseudoautosomal X-linked gene in mouse that normally escapes X chromosome inactivation. We have analysed the kinetics of escape at different stages of development, and in adult tissues...
  19. pmc Evolutionary strata on the mouse X chromosome correspond to strata on the human X chromosome
    Sara A Sandstedt
    Department of Ecology and Evolutionary Biology, and Museum of Zoology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Genome Res 14:267-72. 2004
    ..An analysis of smaller fragments of Smcy, Smcx, Zfy, and Zfx from seven species of Mus confirmed that the strata in Mus musculus were representative of the genus ..
  20. ncbi Nomenclature guidelines for X-linked mental retardation
    J C Mulley
    Department of Cytogenetics and Molecular Genetics, Adelaide Children s Hospital, Australia
    Am J Med Genet 43:383-91. 1992
    ..Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops...
  21. ncbi A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated
    K Jegalian
    Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge 02142, USA
    Nature 394:776-80. 1998
    ..Three genes studied here, and other extant genes, appear to be intermediates. ZFX, RPS4X and SMCX were monitored for X inactivation in diverse species by assaying CpG-island methylation, which mirrors X ..
  22. pmc A novel, essential control for clonality analysis with human androgen receptor gene polymerase chain reaction
    Jeroen P van Dijk
    Central Hematology Laboratory, Nijmegen, The Netherlands
    Am J Pathol 161:807-12. 2002
    ..the efficiency of HpaII digestion by measuring the amplification of a gene that escapes X-chromosome inactivation (XE169) before and after digestion...
  23. pmc The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C
    X Niu
    Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Oncogene 31:776-86. 2012
    ..study of ccRCC tumors revealed that enzymes that regulate histone H3 lysine 4 trimethylation (H3K4Me3), such as JARID1C/KDM5C/SMCX and MLL2, were mutated in ccRCC tumors, suggesting that H3K4Me3 might have an important role in ..
  24. doi Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development
    Gen Bao Shao
    Department of Biology, School of Medical Science and Laboratory Medicine, Jiangsu University, 301 XueFu, Zhenjiang, 212013, China
    In Vitro Cell Dev Biol Anim 50:603-13. 2014
    ..of H3K4me and its key regulators (Ash1l, Ash2l, Kmt2a, Kmt2b, Kmt2c, Setd1a, Setd7, Kdm1a, Kdm1b, Kdm5a, Kdm5b, Kdm5c, and Kdm5d) in mouse oocytes and preimplantation embryos...
  25. doi KDM5C is overexpressed in prostate cancer and is a prognostic marker for prostate-specific antigen-relapse following radical prostatectomy
    Johannes Stein
    Institute of Pathology, University of Bonn, Bonn, Germany
    Am J Pathol 184:2430-7. 2014
    ..Here, we systematically investigated KDM5C expression patterns in two independent radical prostatectomy cohorts (822 prostate tumors in total) by ..
  26. pmc Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
    Emily Brookes
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children s Hospital, MA 02115, USA
    Hum Mol Genet 24:2861-72. 2015
    Mutations in KDM5C are an important cause of X-linked intellectual disability in males. KDM5C encodes a histone demethylase, suggesting that alterations in chromatin landscape may contribute to disease...
  27. doi MicroRNAs regulate KDM5 histone demethylases in breast cancer cells
    Hélène Denis
    Laboratory of Cancer Epigenetics, Faculty of Medicine, Universite Libre de Bruxelles, Brussels, Belgium
    Mol Biosyst 12:404-13. 2016
    ..We discovered that KDM5C is overexpressed in breast cancer cells, providing evidence that miR-138 regulates its expression...
  28. doi Cell Penetrant Inhibitors of the KDM4 and KDM5 Families of Histone Lysine Demethylases. 1. 3-Amino-4-pyridine Carboxylate Derivatives
    Susan M Westaway
    Epinova Discovery Performance Unit, Medicines Research Centre, GlaxoSmithKline R and D, Stevenage SG1 2NY, U K
    J Med Chem 59:1357-69. 2016
    ..Compounds 34 and 39 are also potent inhibitors of KDM5C (JARID1C) (RFMS IC50 = 100-125 nM).
  29. pmc A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation
    Shigeki Iwase
    Division of Newborn Medicine, Boston Children s Hospital and Department of Cell Biology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA Department of Human Genetics, University of Michigan, 5815 Medical Science II, Ann Arbor, MI 48109, USA Electronic address
    Cell Rep 14:1000-9. 2016
    Mutations in a number of chromatin modifiers are associated with human neurological disorders. KDM5C, a histone H3 lysine 4 di- and tri-methyl (H3K4me2/3)-specific demethylase, is frequently mutated in X-linked intellectual disability (..
  30. ncbi Enhancement of Proliferation and Invasion of Gastric Cancer Cell by KDM5C Via Decrease in p53 Expression
    Liming Xu
    Department of Gastroenterology, the Second Affiliated Hospital of Soochow University, Soochow, China
    Technol Cancer Res Treat . 2016
    ..Until now, the mechanisms of gastric cancer genesis remain elusive. The KDM5C is a histone demethylase that promotes cancer cell growth and is enriched in drug-resistant cancer cells...
  31. doi Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
    A Fujita
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Clin Genet 90:276-81. 2016
    ..a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. Two affected boys have c.633delG and the other has c.631delC...
  32. pmc Suppression of Enhancer Overactivation by a RACK7-Histone Demethylase Complex
    Hongjie Shen
    Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, and Key Laboratory of Epigenetics, Department of Cellular and Genetic Medicine, School of Basic Medical Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China Key Laboratory of Birth Defect, Children s Hospital of Fudan University, Shanghai 201102, China
    Cell 165:331-42. 2016
    ..containing a potential chromatin reader, RACK7, and the histone lysine 4 tri-methyl (H3K4me3)-specific demethylase KDM5C occupies many active enhancers, including almost all super-enhancers...
  33. doi Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells
    Gengze Wei
    Department of Integrative Physiology and Neuroscience, Washington State University, Pullman, WA, USA
    J Mol Neurosci 60:33-45. 2016
    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 regulation in neuronal differentiation and morphogenesis...
  34. doi The Transcriptional Repressor Polycomb Group Factor 6, PCGF6, Negatively Regulates Dendritic Cell Activation and Promotes Quiescence
    Giselle M Boukhaled
    Goodman Cancer Research Center, Departments of Microbiology and Immunology and Physiology, McGill University, Montreal, QC H3G 1Y6, Canada
    Cell Rep 16:1829-37. 2016
    ..We show that PCGF6 associates with the H3K4me3 demethylase JARID1c, and together, they negatively regulate H3K4me3 levels in DCs...
  35. pmc Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias
    Andrew Dunford
    Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
    Nat Genet . 2016
    ..Six of 783 non-pseudoautosomal region (PAR) X-chromosome genes (ATRX, CNKSR2, DDX3X, KDM5C, KDM6A, and MAGEC3) harbored loss-of-function mutations more frequently in males (based on a false discovery rate &..
  36. ncbi Smcx lies distal to DXHX674 and DXHX679 on the mouse X chromosome
    S H Laval
    Genetics Division, MRC Mammalian Genetics Unit, Harwell, Oxon OX11 ORD, UK
    Mamm Genome 7:552. 1996
  37. ncbi Short-term memory deficits in carrier females with KDM5C mutations
    R J Simensen
    Greenwood Genetic Center, Greenwood, SC 29201, USA
    Genet Couns 23:31-40. 2012
    We present the cognitive abilities of females from five families who carry a mutation in a gene (KDM5C, formerly JARIDIC or SMCX) in Xp 11...
  38. pmc A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
    Loredana Poeta
    Institute of Genetics and Biophysics Adriano Buzzati Traverso, Consiglio Nazionale delle Ricerche, Naples 80131, Italy
    Am J Hum Genet 92:114-25. 2013
    ..We show that lysine-specific demethylase 5C (KDM5C), a gene known to be mutated in XLID-affected children and involved in chromatin remodeling, is directly regulated ..
  39. doi Prenatal MAM administration affects histone H3 methylation in postnatal life in the rat medial prefrontal cortex
    Marzena Mackowiak
    Laboratory of Pharmacology and Brain Biostructure, Institute of Pharmacology, Polish Academy of Sciences, 12 Smetna Street, 31 343 Krakow, Poland Electronic address
    Eur Neuropsychopharmacol 24:271-89. 2014
    ..In addition, levels of the demethylases LSD1 and JARID1c were analysed after MAM administration. LSD1 protein levels were increased at P15 but decreased at P30...
  40. pmc Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations
    Christoph A Karlo
    From the Genitourinary Imaging Group, Department of Radiology C A K, P L D P, J C, H H, O A, Urology Service, Department of Surgery A A H, P R, Human Oncology and Pathogenesis Program A A H, J J H, Department of Epidemiology and Biostatistics I O, and Department of Medicine, Genitourinary Oncology Service R M, J J H, Memorial Sloan Kettering Cancer Center, 1275 York Ave, Radiology Academic Offices, Room C278, New York, NY 10065
    Radiology 270:464-71. 2014
    To investigate associations between computed tomographic (CT) features of clear cell renal cell carcinoma (RCC) and mutations in VHL, PBRM1, SETD2, KDM5C, or BAP1 genes.
  41. doi Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma
    Lucy Gossage
    Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Robinson Way, Cambridge CB2 0RE, UK
    Genes Chromosomes Cancer 53:38-51. 2014
    ..recurrent mutations in histone modifying and chromatin remodeling genes, including BAP1, PBRM1, SETD2, KDM6A, and JARID1c. Current evidence suggests that BAP1 mutations are associated with aggressive disease...
  42. doi Fumonisin B1 induces global DNA hypomethylation in HepG2 cells - An alternative mechanism of action
    Anil Chuturgoon
    Discipline of Medical Biochemistry, School of Laboratory Medicine and Medical Sciences, University of KwaZulu Natal, Durban, South Africa Electronic address
    Toxicology 315:65-9. 2014
    ..DNMT3A and DNMT3B, and significantly up regulated the demethylases (MBD2 expression and activity, and KDM5B and KDM5C expression)...
  43. doi KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
    Thainá Fernandez Gonçalves
    Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil
    Eur J Med Genet 57:138-44. 2014
    ..Lysine(K)-specific demethylase 5C (KDM5C) is a versatile epigenetic regulator that removes di- and tri-methyl groups of lysine 4 on histone H3 (H3K4) from ..
  44. pmc SMCX and components of the TIP60 complex contribute to E2 regulation of the HPV E6/E7 promoter
    Jennifer A Smith
    Department of Microbiology and Immunobiology, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, United States
    Virology 468:311-21. 2014
    ..studies confirmed a role for Brd4 in mediating the E2 transcriptional repression function, and identified JARID1C/SMCX and EP400 as contributors to E2-mediated repression...
  45. doi Expression of histone H3 lysine 4 methylation and its demethylases in the developing mouse testis
    Liuping Zhang
    Department of Biology, School of Medicine, Jiangsu University, No 301, Xuefu Road, Zhenjiang, 212013, Jiangsu Province, People s Republic of China
    Cell Tissue Res 358:875-83. 2014
    ..The present study was designed to detect the expression of H3K4me1/2/3 and its demethylases LSD1, RBP2 and SMCX in 21-, 40- and 60-day-old mouse testes by using immunohistochemistry, quantitative real-time polymerase chain ..
  46. doi Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability
    Cíntia Barros Santos-Rebouças
    Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil
    J Hum Genet 60:207-11. 2015
    ..Furthermore, the presence of infantile seizures in the second family suggests a potential role of increased KDM5C expression on epilepsy. Our findings highlight the importance of microduplications at Xp11...
  47. pmc H3K4me3 demethylation by the histone demethylase KDM5C/JARID1C promotes DNA replication origin firing
    Beatrice Rondinelli
    Functional Genomics of Cancer Unit, Division of Experimental Oncology, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy Molecular Medicine PhD Program, Vita Salute San Raffaele University, Via Olgettina 58, 20132, Milan, Italy
    Nucleic Acids Res 43:2560-74. 2015
    ..Here, we show that the histone demethylase KDM5C/JARID1C is required for proper DNA replication at early origins...
  48. pmc SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage
    Ivo A Hendriks
    Department of Molecular Cell Biology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Cell Rep . 2015
    ..SUMOylated chromatin modifiers include JARID1B/KDM5B, JARID1C/KDM5C, p300, CBP, PARP1, SetDB1, and MBD1...
  49. pmc Deletion of an X-inactivation boundary disrupts adjacent gene silencing
    Lindsay M Horvath
    Department of Biochemistry and Molecular Biology, Pennsylvania State College of Medicine, Hershey, Pennsylvania, United States of America
    PLoS Genet 9:e1003952. 2013
    ..Previously we determined that large BACs carrying escapee Kdm5c and flanking X-inactivated transcripts are properly regulated...
  50. ncbi Escape from X inactivation of Smcx is preceded by silencing during mouse development
    P A Lingenfelter
    Nat Genet 18:212-3. 1998
  51. ncbi Mouse H-Y encoding Smcy gene and its X chromosomal homolog Smcx
    A I Agulnik
    Department of Obstetrics and Gynecology, 6550 Fannin St, Baylor College of Medicine, Houston, Texas 77030, USA
    Mamm Genome 10:926-9. 1999
  52. ncbi Expression pattern of X-linked genes in sex chromosome aneuploid bovine cells
    Parvathi K Basrur
    Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada
    Chromosome Res 12:263-73. 2004
    ..and 'selected mouse cDNA on the X' (SMCX), in all these cells were also tested. Results showed that XIST expression was significantly higher (p < 0...
  53. ncbi Reactions of group 3 transition metal atoms with CS2 and OCS: Matrix isolation infrared spectra and density-functional calculations of SMCS, SM-(eta2-CS), SMCO, and SM-(eta2-CO) in solid argon
    Alexander B Baker
    Department of Chemistry, University of Virginia, PO Box 400319, Charlottesville, Virginia 22904 4319, USA
    J Phys Chem A 110:10419-26. 2006
    ..Products of the type SMCX and S-M(eta2-CX) (X = S or O) were formed on sample deposition...
  54. pmc Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC
    Ilsiya Ibragimova
    Cancer Epigenetics Program and Kidney Keystone Program, Fox Chase Cancer Center, Philadelphia, PA, USA
    Epigenetics 8:486-93. 2013
    ..ccRCC) have identified inactivating point mutations in the chromatin-modifying genes PBRM1, KDM6A/UTX, KDM5C/JARID1C, SETD2, MLL2 and BAP1...
  55. pmc Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency
    Linghua Wang
    Genome Science Division, Research Center for Advanced Science and Technology RCAST, The University of Tokyo, Tokyo 153 8904, Japan
    Genome Res 22:208-19. 2012
    ..in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C. Together, our data suggest that MLH1 hemizygous deletion, through increasing the rate of indel mutations, could ..
  56. doi Epigenetic regulation in RCC: opportunities for therapeutic intervention?
    James Larkin
    Department of Medicine, The Royal Marsden Hospital, Fulham Road, London SW3 6JJ, UK
    Nat Rev Urol 9:147-55. 2012
    ..Inactivation of other tumor suppressor genes such as SETD2, KDM6A, KDM5C and PBRM1 has been reported in ccRCC--notably, the proteins encoded by these genes are involved in histone and ..
  57. ncbi [A novel solid phase extraction column combined with ultra performance liquid chromatography/tandem mass spectrometry for selective enrichment and determination of clenbuterol in pork]
    Wenying Meng
    School of Pharmacy, East China University of Science and Technology, Shanghai 200237, China
    Se Pu 30:141-5. 2012
    ..by 5% (v/v) perchloric acid and centrifuged at 10 000 r/min for 15 min, then the supernatant was purified by an SMCX cartridge, which is a novel SPE column based on homemade silica matrix with two mixed modes of reversed-phase and ..
  58. pmc Hepatic ontogeny and tissue distribution of mRNAs of epigenetic modifiers in mice using RNA-sequencing
    Hong Lu
    Department of Pharmacology, SUNY Upstate Medical University, Syracuse, NY, USA
    Epigenetics 7:914-29. 2012
    ..Setd8, Ash2l, Dot1l, Cbx1, Cbx3, Cbx5, Cbx6, Ezh2, Suz12, Eed, Suv39h1, Suv420h2, Dek, Hdac1, Hdac2, Hdac7, Kdm2b, Kdm5c, Kdm7, Prmt1-5, Prmt7, Smarca4, Smarcb1, Chd4 and Ino80e...
  59. doi Loss of PBRM1 expression is associated with renal cell carcinoma progression
    Rafal Pawłowski
    Institute of Molecular Health Sciences, ETH Zurich, Zurich, Switzerland
    Int J Cancer 132:E11-7. 2013
    ..clear cell renal cell carcinoma (ccRCC), recent studies have identified new ccRCC genes, including SETD2, KDM6A, KDM5C, BAP1 and PBRM1. Strikingly, all these genes fall into a category of histone/chromatin regulators...
  60. pmc Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma
    A Ari Hakimi
    Urology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Eur Urol 63:848-54. 2013
    ..frequent mutations of histone modifying and chromatin remodeling genes in ccRCC including PBRM1, SETD2, BAP1, and KDM5C. PBRM1, SETD2, and BAP1 are located in close proximity to VHL within a commonly lost (approximately 90%) 3p locus...
  61. pmc No evidence for a second evolutionary stratum during the early evolution of mammalian sex chromosomes
    Yukako Katsura
    Department of Evolutionary Study of Biosystems, The Graduate University for Advanced Studies Sokendai, Hayama, Kanagawa, Japan
    PLoS ONE 7:e45488. 2012
    ..eutherian orthologs that reside in stratum 1 or 2: SOX3/SRY, RBMX/Y, RPS4X/Y, HSFX/Y, XKRX/Y, SMCX/Y (KDM5C/D, JARID1C/D), and UBE1X/Y (UBA1/UBA1Y)...
  62. pmc Maternal diets trigger sex-specific divergent trajectories of gene expression and epigenetic systems in mouse placenta
    Anne Gabory
    INRA, UMR1198 Biologie du Développement et Reproduction, Jouy en Josas, France
    PLoS ONE 7:e47986. 2012
    ..dysregulated, due to effects of diet, sex or both, including the Y- and X-linked histone demethylase paralogues Kdm5c and Kdm5d, which could mark differently male and female epigenomes...
  63. pmc Transcriptional regulation of 15-lipoxygenase expression by histone h3 lysine 4 methylation/demethylation
    Cheng Liu
    Department of Medicine, Division of Hematology, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden
    PLoS ONE 7:e52703. 2012
    ..In contrast, inhibition of SMCX, a JmjC-domain-containing H3-K4 tri-demethylase, upregulated 15-LOX-1 expression through induction of H3-K4 ..
  64. pmc Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C
    Daria Grafodatskaya
    Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada
    BMC Med Genomics 6:1. 2013
    ..Identification of epigenetic alterations occurring in these disorders could shed light on molecular pathways relevant to neurodevelopment...
  65. doi Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function
    Nikolay S Outchkourov
    Molecular Cancer Research, University Medical Centre Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Cell Rep 3:1071-9. 2013
    ..Here, we show that the Kdm5c/Jarid1c/SMCX member of the Kdm5 family of H3K4 demethylases can be recruited to both enhancer and promoter elements in ..
  66. doi Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway
    Thomas Arnesen
    Department of Surgery, Haukeland University Hospital, 5021 Bergen, Norway
    Langenbecks Arch Surg 398:869-74. 2013
    ..the mutation status of KCNJ5 and seven additional candidate genes for tumorigenesis: YY1, FZD4, ARHGAP9, ZFP37, KDM5C, LRP1B, and PDE9A and, furthermore, the surgical outcome of PA patients who underwent surgery in Western Norway.
  67. pmc Targeting H3K4 trimethylation in Huntington disease
    Malini Vashishtha
    Department of Psychiatry and Human Behavior and UCI Institute of Memory Impairments and Neurological Disorders, University of California, Irvine, CA 92697, USA
    Proc Natl Acad Sci U S A 110:E3027-36. 2013
    ..Reducing the levels of the H3K4 demethylase SMCX/Jarid1c in primary neurons reversed down-regulation of key neuronal genes caused by mutant Huntingtin expression...
  68. ncbi Identification of a mouse male-specific transplantation antigen, H-Y
    D M Scott
    MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Nature 376:695-8. 1995
    ..We have recently identified Smcy, a ubiquitously expressed gene, in this region and its X-chromosome homologue, Smcx. Here we report that Smcy encodes an H-YKk epitope that is defined by the octamer peptide TENSGKDI: no similar ..
  69. ncbi Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein
    W Wang
    Department of Microbiology, University of Virginia, Charlottesville 22908, USA
    Science 269:1588-90. 1995
    ..The protein from the homologous gene on the X chromosome, SMCX, differs by two amino acid residues in the same region...
  70. ncbi The DXS423E gene in Xp11.21 escapes X chromosome inactivation
    C J Brown
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Hum Mol Genet 4:251-5. 1995
    ..The XE169 (DXS1272E or SMCX) gene that escapes X chromosome inactivation is also located in Xp11.21-11...
  71. ncbi The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation
    R Sultana
    Department of Pathology, University of Washington, Seattle 98195, USA
    Hum Mol Genet 4:257-63. 1995
    ..21-p11.22 in human and band XF in mouse. In situ hybridization also showed that the Smcx (Xe169) gene maps near Sb1.8 in band F. The Sb1...
  72. ncbi Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation
    T Takeuchi
    Mitsubishi Kasei Institute of Life Sciences, Machida, Tokyo, Japan
    Genes Dev 9:1211-22. 1995
    ..homology with human retinoblastoma-binding protein RBP-2 and with a putative protein encoded by human gene XE169 that escapes X-chromosome inactivation...
  73. ncbi The murine Xe169 gene escapes X-inactivation like its human homologue
    J Wu
    Department of Pediatrics, University of California, San Francisco 94143
    Nat Genet 7:491-6. 1994
    ..We report here the cloning and expression studies of a novel mouse gene, Xe169, and show that it escapes X-inactivation like its human homologue...
  74. ncbi High-resolution comparative mapping of the proximal region of the mouse X chromosome
    H J Blair
    Genetics Division, MRC Radiobiology Unit, Chilton, Oxon, United Kingdom
    Genomics 28:305-10. 1995
    ..of evolutionary breakpoints with respect to key loci has been established as DMD-EB-XK-PFC-EB-GATA1-C1CN5-EB-DXS1272E-ALAS2-E B-DXF34-centromere...
  75. ncbi Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene
    L Carrel
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Hum Mol Genet 5:1361-6. 1996
    ..patterns are established on the inactive X chromosome during development, we have studied the murine gene Smcx, which is expressed from both the active and inactive mouse X chromosomes...
  76. ncbi Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven
    A I Agulnik
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Mamm Genome 8:134-8. 1997
    ..In order to address this problem, we have analyzed the rates of evolution in the homologous X-Y common SMCX/SMCY genes from three different species--mouse, human, and horse...
  77. ncbi The UTX gene escapes X inactivation in mice and humans
    A Greenfield
    Centre for Molecular and Cellular Biology and Department of Anatomical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia
    Hum Mol Genet 7:737-42. 1998
    ..Only Smcx and the pseudoautosomal Sts gene on the mouse X chromosome have been reported previously to escape inactivation...
  78. ncbi An integrated genetic and man-mouse comparative map of the DXHXS674-Pdha1 region of the mouse X chromosome
    H J Blair
    MRC Mammailan Genetics Unit, Harwell, Oxon, United Kingdom
    Genomics 48:128-31. 1998
    ..The order of genes and evolutionary breakpoints (EB) is defined as centromere-(EB)-(DXHXS674, DXHXS679)-Smcx-(EB)-Oa1-(EB)-Phex (3'-->5')-Pdha1-telomere...
  79. ncbi Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human
    K D Tsuchiya
    Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio 44106 4955, USA
    Mamm Genome 11:849-54. 2000
    ..In contrast to human, only the mouse Smcx gene has been found to escape inactivation in this region thus far, despite a highly conserved physical map between ..
  80. ncbi Sex differences in sex chromosome gene expression in mouse brain
    Jun Xu
    Department of Physiological Science and Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, Los Angeles, CA 90095 1606, USA
    Hum Mol Genet 11:1409-19. 2002
    ..Six X-linked homologues (Usp9x, Ube1x, Smcx, Eif2s3x, Utx and Dbx) were also expressed in brain, and in adulthood all of these transcripts were expressed at ..
  81. ncbi A mapping and evolutionary study of porcine sex chromosome genes
    Claire R Quilter
    Human Molecular Genetics Group, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK
    Mamm Genome 13:588-94. 2002
    ..order of the porcine X Chromosome (Chr) closely resembled the human X Chr (PRK/STS/KAL-AMELX-EIF2s3X/ZFX-USP9X-DBX-SMCX), suggesting that the porcine X has undergone very little rearrangement during evolution...
  82. ncbi Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches
    Robert J Agate
    Department of Physiological Science, University of California, Los Angeles, USA
    Mol Biol Evol 21:384-96. 2004
    ..These differences between CHD1Z and CHD1W suggest that the two proteins may have diverged in their function...
  83. pmc Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse
    Karen D Tsuchiya
    Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Genome Res 14:1275-84. 2004
    ..Despite highly conserved gene content and order between the two species, Smcx is the only mouse gene from the conserved segment that escapes inactivation...
  84. ncbi TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution
    Margaret L Delbridge
    INSERM U 491 Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 05, France
    Chromosome Res 12:345-56. 2004
    ..Here we show that a TSPY homologue with similar gene structure lies in conserved positions, close to SMCX, on the X chromosome in human (TSPX ) and mouse (Tspx). TSPX is widely expressed and subject to X inactivation...
  85. ncbi Noradrenergic modulation of hemiplegia: facilitation and maintenance of recovery
    Dennis M Feeney
    Department of Psychology, University of New Mexico, Albuquerque, NM 87131 1161, USA
    Restor Neurol Neurosci 22:175-90. 2004
    ..The effect of some drugs change with time after sensorimotor cortex (SMCx) injury...
  86. ncbi Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development
    Galina N Filippova
    Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Dev Cell 8:31-42. 2005
    ..We report that the 5' end of Jarid1c, a mouse escape gene adjacent to an inactivated gene, binds CTCF, displays high levels of histone H3 acetylation, ..
  87. ncbi Male-driven evolution in closely related species of the mouse genus Mus
    Sara A Sandstedt
    Department of Ecology and Evolutionary Biology and Museum of Zoology, University of Michigan, Ann Arbor, MI 48109, USA
    J Mol Evol 61:138-44. 2005
    ..from a gene in the nonrecombining region of the Y chromosome Jarid1d (Smcy) and its X chromosomal gametolog, Jarid1c (Smcx), were analyzed in a phylogenetic context...
  88. ncbi Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies
    M I Nino-Soto
    Department of Biomedical Sciences, University of Guelph, Guelph, ON, Canada
    Cytogenet Genome Res 111:57-64. 2005
    ..real-time PCR to study the pattern of expression of X-linked genes including SLC25A6, GAB3, MECP2, RPS4X, JARID1C, UBE1, BIRC4 and SLC16A2...
  89. pmc X linked mental retardation: a clinical guide
    F L Raymond
    Cambridge Institute of Medical Research, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    J Med Genet 43:193-200. 2006
    ..non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis...
  90. ncbi Inefficient purifying selection: the mammalian Y chromosome in the rodent genus Mus
    Sara A Sandstedt
    Department of Ecology and Evolutionary Biology, and Museum of Zoology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Mamm Genome 17:14-21. 2006
    ..Six hundred fifty-seven base pairs of coding sequence of Jarid1d (Smcy) on the Y chromosome and Jarid1c (Smcx) on the X chromosome were sequenced in 13 rodent taxa...
  91. ncbi [Monogenic causes of X-linked mental retardation]
    E Guillen-Navarro
    Unidad de Genética Médica, Servicio de Pediatria, Hospital Universitario Virgen de la Arrixaca, Ctra Madrid Cartagena, s n E 30120 El Palmar Murcia
    Rev Neurol 42:S45-9. 2006
    ..Mutations in the PQBP1 and JARID1C genes have been identified in patients with mental retardation associated to microcephaly and short stature...
  92. ncbi [Non-specific X-linked mental retardation]
    F Martínez-Castellano
    Hospital Universitario La Fe, 46009 Valencia, Espana
    Rev Neurol 42:S77-83. 2006
    ..Genetic linkage studies showed it to have a high rate of genetic heterogeneity...
  93. ncbi Alterations in cerebral cortex microvessels and the microcirculation in a rat model of traumatic brain injury: a correlative EM and laser Doppler flowmetry study
    Jose A Rafols
    Department of Anatomy and Cell Biology, Scott Hall, Room No 9312, Wayne State University School of Medicine, 540 E Canfield, Detroit, MI 48201, USA
    Neurol Res 29:339-47. 2007
    ..of fluctuations in cortical cerebral blood flow (CBF) with ultrastructural alterations of microvessels in rat sensorimotor cortex (smCx) following administration of a rodent acceleration impact model of traumatic brain injury (TBI).
  94. ncbi Extent of nerve cell injury in Marmarou's model compared to other brain trauma models
    Jose A Rafols
    Department of Anatomy and Cell Biology, Scott Hall, Room No 9312, Wayne State University School of Medicine, 540 E Canfield, Detroit, MI 48201, USA
    Neurol Res 29:348-55. 2007
    ..We sought to determine the extent of nerve cell injury in the Marmarou's acceleration impact model of diffuse brain injury...
  95. ncbi cDNA cloning, bioinformatic and tissue-specific expression analysis of porcine JARID1C gene
    Lu Yi
    College of Animal Science and Technology, Nanjing Agricultural University, Nanjing 210095, China
    J Genet Genomics 34:1088-96. 2007
    Jumonji, AT-rich interactive domain 1C (JARID1C) protein belongs to the highly conserved ARID protein family, which is involved in chromatin remodeling and transcriptional regulation during cell growth, differentiation, and development...
  96. doi A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)
    Abidemi Adegbola
    Harvard Medical School Genetics Training Program, Boston, Massachusetts, USA
    Am J Med Genet A 146:505-11. 2008
    ..delay and autism spectrum disorder who has a missense mutation in the Jumonji AT-rich interactive domain 1C (JARID1C) gene...
  97. pmc Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26
    Maribeth A Lazzaro
    Ottawa Health Research Institute, 501 Smyth Road, Ottawa, ON K1H 8L6, Canada
    BMC Med Genet 9:11. 2008
    ..These genes encode proteins that regulate DNA methylation (MeCP2), modify histones (RSK2 and JARID1C), and remodel nucleosomes through ATP hydrolysis (ATRX)...
  98. pmc Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain
    Jun Xu
    Department of Pathology, University of Washington, Seattle, Washington, United States of America
    PLoS ONE 3:e2553. 2008
    b>Jarid1c, an X-linked gene coding for a histone demethylase, plays an important role in brain development and function. Notably, JARID1C mutations cause mental retardation and increased aggression in humans...
  99. doi Genetic and epigenetic defects in mental retardation
    Jamie M Kramer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Int J Biochem Cell Biol 41:96-107. 2009
    ..Prominent examples of these include the methyl CpG-binding protein MECP2, the H3K4 demethylase JARID1c and the H3K9 histone methyltransferase EHMT1...
  100. pmc Epigenetic regulation in human brain-focus on histone lysine methylation
    Schahram Akbarian
    Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusettsm USA
    Biol Psychiatry 65:198-203. 2009
    ..within the genes encoding the H3K9-specific methyltransferase, EHMT1, and the H3K4-specific histone demethylase, JARID1C/SMCX, have been linked to mental retardation and autism, respectively...
  101. pmc Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus
    Nan Li
    Department of Biochemistry and Molecular Biology and Intercollege Graduate Program in Genetics, Pennsylvania State College of Medicine, Hershey, PA 17033, USA
    Proc Natl Acad Sci U S A 105:17055-60. 2008
    ..Two BACs carrying the mouse Jarid1c gene and adjacent X-inactivated transcripts were randomly integrated into mouse XX embryonic stem cells...

Research Grants17

  1. Jun Xu; Fiscal Year: 2016
    ..We recently identified and characterized two histone demethylases, SMCX and PHF8, both causing mental retardation when mutated in humans, suggesting an important role for histone ..
  2. Cun Yu Wang; Fiscal Year: 2016
    ..Interestingly, we found that E6/E7 potently suppressed KDM5C (also known as SMCX) expression in OSCC cells...
  3. X-linked Genes, Histone Modifications, and Behavior
    Jun Xu; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Jarid1c is an X-linked gene expressed more highly in females than in males, suggesting that it may contribute to the effect of sex chromosome complement (XX vs. XY) on behaviors such as aggression...
  4. The Histone Demethylase SMCX/JARED1C as a Therapeutic Target for Huntington's Dis
    Leslie Michels Thompson; Fiscal Year: 2012
    ..focus of this proposal is to explore a potential novel therapeutic target for HD, the histone demethylase SMCX/JARID1C. The impetus for this work comes from the study of expression of the gene encoding BDNF, a critical neurotrophic ..
  5. Jenny Hsieh; Fiscal Year: 2014
    ..of conditional mutation of HDAC2 and G9a, and inhibition of class I HDACs, G9a histone methyltransferase and LSD1/SMCX histone demethylase, on their SE-induced, REST-mediated transcriptional profile...
  6. Haifeng Yang; Fiscal Year: 2016
    ..and degradation of activated EGFR;b) affecting EGFR signaling transcriptionally by suppressing JARID1C to maintain the overall H3K4Me3 level (H3K4Me3 is critical for active gene transcription);and c) maintaining the ..
  7. MOLECULAR BIOLOGY OF THE MOUSE Y CHROMOSOME
    COLIN BISHOP; Fiscal Year: 2000
    ..Using cDNA selection, Bishop's group identified Smcy and its homologue on the X chromosome, Smcx. These genes encode members of a family of putative transcription factors that includes the human retinoblastoma ..
  8. Roles and Mechanisms of Action of SMCX/JARID1C in Cell Biology
    ANDREW BARBERA; Fiscal Year: 2009
    b>SMCX, a novel histone demethylase, was recently reported to interact with the newly identified E2F family member, E2F6. E2F6 is believed to regulate the cell cycle through a transcriptional repression mechanism...
  9. CONTROL OF MICROVASCULAR TONE IN TRAUMATIC BRAIN INJURY
    Jose Rafols; Fiscal Year: 2008
    ..unreadable]..
  10. EPIGENETIC CHANGES IN FRONTAL LOBE OF SCHIZOPHRENICS
    Schahram Akbarian; Fiscal Year: 2009
    ....
  11. DOPAMINERGIC SIGNALING MODIFIES STRATIAL HISTONES
    Schahram Akbarian; Fiscal Year: 2009
    ....
  12. Chromatin Alterations in Rett Syndrome
    Schahram Akbarian; Fiscal Year: 2009
    ..It is expected that these approaches will provide a clear and comprehensive picture on the developmental regulation of histone modifications in cortical neurons, including potential changes in MECP2-deficient brain. ..
  13. Cellular Response to Retroviral DNA Integration
    Rene Daniel; Fiscal Year: 2007
    ..They should also significantly enhance our understanding of the function of these important cellular pathways. [unreadable] [unreadable]..
  14. Structure and Function of CTCF: Mouse Model Studies
    Galina Filippova; Fiscal Year: 2007
    ..1 where CTCF maps. The health-relatedness is that the identified mechanisms can be targeted for both cancer prevention and therapeutic intervention. ..
  15. Chromatin Pathology in Cerebral Cortex of Schizophrenics
    Schahram Akbarian; Fiscal Year: 2006
    ..Finally, the proposed studies will provide the framework for future proposals designed to map histone modification patterns across entire chromosomes in human brain, including alterations in major psychiatric disease. ..
  16. Treating Depression with Histone Deacetylase Inhibitors
    Schahram Akbarian; Fiscal Year: 2006
    ..abstract_text> ..