MYL3

Summary

Gene Symbol: MYL3
Description: myosin, light chain 3, alkali; ventricular, skeletal, slow
Alias: CMH8, MLC1SB, MLC1V, VLC1, CMLC1, cardiac myosin light chain 1, myosin light chain 1, slow-twitch muscle B/ventricular isoform, myosin light chain 3, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow, ventricular/slow twitch myosin alkali light chain
Species: human

Top Publications

  1. pmc Developmental regulation of myosin gene expression in mouse cardiac muscle
    G E Lyons
    Department of Molecular Biology, Unité de Recherche Associée Centre national de la Recherche Scientifique 1148 Pasteur Institute, Paris, France
    J Cell Biol 111:2427-36. 1990
  2. doi Differentially expressed proteins during fat accumulation in bovine skeletal muscle
    Qiankun Zhang
    Department of Agricultural Biotechnology, Research Institute for Agriculture and Life Sciences, Seoul National University, Seoul, 151 921, Republic of Korea
    Meat Sci 86:814-20. 2010
  3. pmc Intact lipid rafts regulate HIV-1 Tat protein-induced activation of the Rho signaling and upregulation of P-glycoprotein in brain endothelial cells
    Yu Zhong
    Department of Neurosurgery, Molecular Neuroscience and Vascular Biology Laboratory, University of Kentucky Medical Center, Lexington, Kentucky 40536, USA
    J Cereb Blood Flow Metab 30:522-33. 2010
  4. ncbi Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location
    W L Fodor
    Department of Biochemistry, Ohio State University, Columbus 43210
    J Biol Chem 264:2143-9. 1989
  5. ncbi Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats
    Hannelore Haase
    Max Delbruck Center for Molecular Medicine, Berlin, Germany
    FASEB J 20:865-73. 2006
  6. doi Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation
    Allison Jay
    Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children s Hospital of Michigan, Detroit, Michigan 48201, USA
    Cardiology 124:248-51. 2013
  7. ncbi The myosin alkali light chains of mouse ventricular and slow skeletal muscle are indistinguishable and are encoded by the same gene
    P J Barton
    J Biol Chem 260:8578-84. 1985
  8. ncbi High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device
    Huijun Tian
    Department of Chemistry, University of California Berkeley, Berkeley, CA 94720, USA
    Electrophoresis 26:1834-42. 2005
  9. ncbi Proteomic analysis of fast and slow muscles from normal and kyphoscoliotic mice using protein arrays, 2-DE and MS
    Marie Catherine Le Bihan
    Division Basic Medical Sciences, St George s, University of London, UK
    Proteomics 6:4646-61. 2006
  10. pmc Role of the cytoskeleton in muscle transcriptional responses to altered use
    Gretchen A Meyer
    Department of Bioengineering, University of California, San Diego, CA, USA
    Physiol Genomics 45:321-31. 2013

Scientific Experts

  • P S Andersen
  • Michael Berna
  • Lucas González
  • M Cristina Cardoso
  • Yutaka Tonomura
  • Siv Fokstuen
  • W Al Sarakbi
  • M C Schaub
  • P J Reiser
  • Stephane Zaffran
  • TIMOTHY MARK OLSON
  • Diego Franco
  • Hiroyuki Morita
  • Michael J Ackerman
  • J Martijn Bos
  • Gisela Tunnemann
  • Hannelore Haase
  • Allison Jay
  • Gretchen A Meyer
  • Haruna Otsuka
  • Evrim Komurcu-Bayrak
  • Pamela A Marshall
  • Fukiko Ichida
  • Bo Chang
  • Merel Koning
  • Kevin White
  • Maximilian G Posch
  • Xiaodong Sun
  • Colleen Caleshu
  • Tomas B Walden
  • Nelson LopezJimenez
  • Yu Zhong
  • Francesca Girolami
  • Qiankun Zhang
  • Francine Z Marques
  • Juan Pablo Kaski
  • Christopher J McLeod
  • Daniel Vega Møller
  • Steve R Ommen
  • Bernard J Gersh
  • Jeanne L Theis
  • Zhiyv Niu
  • Lucile Ryckebusch
  • Suzhen Zhang
  • Christine E Seidman
  • Michael Christiansen
  • J G Seidman
  • Peter Karczewski
  • Robert J Schwartz
  • Ingo Morano
  • Andreas Perrot
  • Marie Catherine Le Bihan
  • Shu Xing Zhang
  • Stuart J Smith
  • J Ingles
  • Huijun Tian
  • Carlos Darío Ramírez
  • Baotong Xie
  • Pascale Richard
  • Alessandra Moretti
  • Zhyldyz T Kabaeva
  • Janet Poulik
  • Richard L Lieber
  • Rashmi Chikarmane
  • Vinod K Misra
  • Simon Schenk
  • Yoshinori L Doi
  • Mamoru Ayusawa
  • Hiroshi Nakamura
  • Masunori Matsuzaki
  • Takuro Arimura
  • Christa Tabacaru
  • Taishi Sasaoka
  • Tadaaki Abe
  • Toru Kubo
  • Keiichi Fukuda
  • Tim Widener
  • Zachary Hernandez
  • Ichiro Kaneko
  • Shinichi Nunoda
  • Toru Izumi
  • Kazufumi Nakamura
  • Hiroaki Kitaoka
  • Izayadeth Aguayo
  • Naoto Ashizawa
  • Hiroya Kawai
  • Mitsuaki Isobe
  • Peter W Jurutka
  • Nihan Erginel-Unaltuna
  • Yoshiyasu Aizawa

Detail Information

Publications72

  1. pmc Developmental regulation of myosin gene expression in mouse cardiac muscle
    G E Lyons
    Department of Molecular Biology, Unité de Recherche Associée Centre national de la Recherche Scientifique 1148 Pasteur Institute, Paris, France
    J Cell Biol 111:2427-36. 1990
    ..the newly formed cardiac tube begins to express MHC alpha, MHC beta, MLC1 atrial (MLC1A), and MLC1 ventricular (MLC1V) gene transcripts at high levels throughout the myocardium...
  2. doi Differentially expressed proteins during fat accumulation in bovine skeletal muscle
    Qiankun Zhang
    Department of Agricultural Biotechnology, Research Institute for Agriculture and Life Sciences, Seoul National University, Seoul, 151 921, Republic of Korea
    Meat Sci 86:814-20. 2010
    ..D chain (ATP5H), and two down-regulated proteins with higher IMF scores, carbonic anhydrase 2 (CA2) and myosin light chain 3 (MYL3)...
  3. pmc Intact lipid rafts regulate HIV-1 Tat protein-induced activation of the Rho signaling and upregulation of P-glycoprotein in brain endothelial cells
    Yu Zhong
    Department of Neurosurgery, Molecular Neuroscience and Vascular Biology Laboratory, University of Kentucky Medical Center, Lexington, Kentucky 40536, USA
    J Cereb Blood Flow Metab 30:522-33. 2010
    ..The present data indicate the critical function of intact lipid rafts and the Rho signaling in HIV-1-mediated upregulation of P-gp and potential development of drug resistance in brain endothelial cells...
  4. ncbi Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location
    W L Fodor
    Department of Biochemistry, Ohio State University, Columbus 43210
    J Biol Chem 264:2143-9. 1989
    ..Interestingly the corresponding mouse gene has been mapped to the distal region of mouse chromosome 9 which contains a conserved syntenic group of genes that map to the short arm of human chromosome 3...
  5. ncbi Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats
    Hannelore Haase
    Max Delbruck Center for Molecular Medicine, Berlin, Germany
    FASEB J 20:865-73. 2006
    ..The positive inotropic effect of MLC-1 peptides occurred in the absence of a hypertrophic response. Thus, expression of N-terminal domains of MLC-1 represent a valuable tool for the treatment of the failing heart...
  6. doi Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation
    Allison Jay
    Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children s Hospital of Michigan, Detroit, Michigan 48201, USA
    Cardiology 124:248-51. 2013
    ..with severe progressive HCM arising from a mutation in the gene encoding the essential light chain of myosin (MYL3). The patient was found to have a novel, paternally inherited pathogenic c...
  7. ncbi The myosin alkali light chains of mouse ventricular and slow skeletal muscle are indistinguishable and are encoded by the same gene
    P J Barton
    J Biol Chem 260:8578-84. 1985
    ..a cDNA recombinant plasmid (pA29) identified as encoding part of the ventricular muscle myosin light chain MLC1v. This cDNA contains a 300-base pair fragment which under conditions of moderate stringency shows specific ..
  8. ncbi High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device
    Huijun Tian
    Department of Chemistry, University of California Berkeley, Berkeley, CA 94720, USA
    Electrophoresis 26:1834-42. 2005
    ..Using 5% PDMA containing 10% glycerol and 15% urea, 21 single-nucleotide polymorphisms (SNPs) from HFE, MYL2, MYL3, and MYH7 genes associated with hereditary hemochromatosis (HHC) and hereditary hypertrophic cardiomyopathy (HCM) ..
  9. ncbi Proteomic analysis of fast and slow muscles from normal and kyphoscoliotic mice using protein arrays, 2-DE and MS
    Marie Catherine Le Bihan
    Division Basic Medical Sciences, St George s, University of London, UK
    Proteomics 6:4646-61. 2006
    ..to identify a panel of fast muscle protein markers: MLC1F, MLC3F, fast troponin C (STNC) and slow muscle markers: MLC1SB and MLC2v...
  10. pmc Role of the cytoskeleton in muscle transcriptional responses to altered use
    Gretchen A Meyer
    Department of Bioengineering, University of California, San Diego, CA, USA
    Physiol Genomics 45:321-31. 2013
    ..the interaction between aging and the absence of desmin, including many genes related to slow fiber pathway (Myh7, Myl3, Atp2a2, and Casq2) and insulin sensitivity (Tlr4, Trib3, Pdk3, and Pdk4)...
  11. ncbi Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy
    Haruna Otsuka
    Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Japan
    Circ J 76:453-61. 2012
    ..Although there are several reports on the systematic screening of mutations in the disease-causing genes in European and American populations, only limited information is available for Asian populations, including Japanese...
  12. pmc Discovery of novel vitamin D receptor interacting proteins that modulate 1,25-dihydroxyvitamin D3 signaling
    Pamela A Marshall
    Division of Mathematical and Natural Sciences, Arizona State University, Glendale, AZ 85306, United States
    J Steroid Biochem Mol Biol 132:147-59. 2012
    ..These novel VIPs include CXXC5, FASTK, NR4A1, TPM2, MYL3 and XIRP1...
  13. doi Isolation and analysis of genes mainly expressed in adult mouse heart using subtractive hybridization cDNA library
    Evrim Komurcu-Bayrak
    Department of Genetics, Institute for Experimental Medicine, Istanbul University, Vakif Gureba cad, 34080 Sehremini, Istanbul, Turkey
    Mol Biol Rep 39:8065-74. 2012
    ..In Northern blot analyses, the expression levels of Myl3, Myl2, Mfn2, Dcn, Pdlim4, mt-Co3, mt-Co1, Atpase6 and Tsc22d1 genes were higher in heart than skm...
  14. pmc Shared genetic causes of cardiac hypertrophy in children and adults
    Hiroyuki Morita
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 358:1899-908. 2008
    ..Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown...
  15. doi Increased throughput for low-abundance protein biomarker verification by liquid chromatography/tandem mass spectrometry
    Michael Berna
    Eli Lilly and Company, Drug Disposition Biomarker Group, Lilly Corporate Center, Indianapolis, Indiana 46285, USA
    Anal Chem 81:3950-6. 2009
    ..application to previously published LC/MS/MS protein assays from our laboratory for two cardiotoxicity biomarkers, Myl3 and NTproBNP...
  16. pmc Modulation of muscle contraction by a cell-permeable peptide
    Gisela Tunnemann
    Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125, Berlin, Germany
    J Mol Med (Berl) 85:1405-12. 2007
    ....
  17. pmc The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    Daniel Vega Møller
    Department of Cardiology, Rigshospitalet, University of Copenhagen, Denmark
    Eur J Hum Genet 17:1241-9. 2009
    ..subsequently by bidirectional DNA sequencing of conformers in the coding regions of MYH7, MYBPC3, TPM1, ACTC, MYL2, MYL3, TNNT2, CSRP3 and TNNI3. Eight probands carried disease-associated genetic variants (26%)...
  18. ncbi Strategic use of immunoprecipitation and LC/MS/MS for trace-level protein quantification: myosin light chain 1, a biomarker of cardiac necrosis
    Michael J Berna
    Lilly Research Laboratories, Eli Lilly and Company, Greenfield, Indiana 46140, USA
    Anal Chem 79:4199-205. 2007
    Myosin light chain 1 (Myl3) is a 23-kDa isoform of one of the subunits of myosin, a protein involved in muscle contraction...
  19. doi Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
    Paal Skytt Andersen
    Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark
    Hum Mutat 30:363-70. 2009
    ..Index patients were screened for mutations in all coding regions of 10 sarcomere genes (MYH7, MYL3, MYBPC3, TNNI3, TNNT2, TPM1, ACTC, CSRP3, TCAP, and TNNC1) and five exons of TTN...
  20. pmc Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart
    Zhiyv Niu
    Center for Cardiovascular Development, Section of Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 105:17824-9. 2008
    ..The appearance of Hand1 and Smyd1, transcription and chromatin remodeling factors; Acta1, Acta2, Myl3, and Myom1, myofibril proteins; and calcium-activated potassium-channel gene activity (KCNMB1), the channel protein,..
  21. ncbi [An experimental study of the role of myosin light chain in myogenesis in vitro]
    Suzhen Zhang
    School of Life Science, Sichuan University, Chengdu Sichuan, 610041, P R China
    Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 22:753-8. 2008
    ..To investigate the role of myosin light chain (Myl) in myogenesis in vitro...
  22. pmc Retinoic acid deficiency alters second heart field formation
    Lucile Ryckebusch
    Developmental Biology Institute of Marseille Luminy, Centre National de la Recherche Scientifique Unité Mixte de Recherche 6216, Campus de Luminy Case 907, 13009 Marseille, France
    Proc Natl Acad Sci U S A 105:2913-8. 2008
    ..Raldh2(-/-) embryos exhibited a posterior expansion of anterior markers of the SHF, including Tbx1, Fgf8, and the Mlc1v-nlacZ-24/Fgf10 reporter transgene as well as of Islet1...
  23. doi A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Siv Fokstuen
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 29:879-85. 2008
    ..and 5'UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2)...
  24. doi Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy
    J Martijn Bos
    Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    Am Heart J 155:1128-34. 2008
    ..We sought to evaluate the influence of sex on the HCM phenotype in a large cohort of unrelated patients with genetically and morphologically classified HCM...
  25. pmc The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters
    W Al Sarakbi
    St George s University of London, London, UK
    BMC Cancer 9:290. 2009
    ..This region includes closely related genes namely: MYL3, CCDC12, KIF9, KLHL18 and SETD2...
  26. pmc Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations
    Christopher J McLeod
    Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Am Heart J 158:799-805. 2009
    ..The presence of cardiac myofilament and mutations and RAAS polymorphisms will have a strong association with the severity of histologic features of HC and characteristic septal shape...
  27. pmc Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects
    Maximilian G Posch
    Department of Cardiothoracic and Vascular Surgery, Deutsches Herzzentrum Berlin, Berlin, Germany
    PLoS ONE 6:e28872. 2011
    ..inherited ASDII, we analyzed 13 sarcomeric genes (MYH7, MYBPC3, TNNT2, TCAP, TNNI3, MYH6, TPM1, MYL2, CSRP3, ACTC1, MYL3, TNNC1, and TTN kinase region) in 31 patients with familial ASDII using array-based resequencing...
  28. pmc Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
    Colleen Caleshu
    Stanford Center for Inherited Cardiovascular Disease, Stanford University Medical Center, Stanford, California 94305, USA
    Am J Med Genet A 155:2229-35. 2011
    ..Sequencing of sarcomere genes revealed previously reported homozygous p.Glu143Lys mutations in MYL3, and a novel heterozygous p.Gly57Glu mutation in MYL2...
  29. doi Hypoxia promotes proliferation of human myogenic satellite cells: a potential benefactor in tissue engineering of skeletal muscle
    Merel Koning
    Department of Plastic Surgery, University of Groningen, Groningen, The Netherlands
    Tissue Eng Part A 17:1747-58. 2011
    ..Moreover, gene expression of structural proteins α-sarcomeric actin, and myosins MYL1 and MYL3 was upregulated by hypoxia during differentiation. This indicates that hypoxia promotes a promyogenic shift in SC...
  30. pmc Serotonin transporter, sex, and hypoxia: microarray analysis in the pulmonary arteries of mice identifies genes with relevance to human PAH
    Kevin White
    Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK
    Physiol Genomics 43:417-37. 2011
    ..We selected 10 genes of interest for qRT-PCR analysis (FOS, CEBPβ, CYP1B1, MYL3, HAMP2, LTF, PLN, NPPA, UCP1, and C1S), and 100% concordance was reported...
  31. doi Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
    Siv Fokstuen
    Genetic Medicine, Centre Medical Universitaire, 1 rue Michel Servet, Geneva, Switzerland
    J Med Genet 48:572-6. 2011
    ..However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory...
  32. doi Icariin induces mouse embryonic stem cell differentiation into beating functional cardiomyocytes
    Xiaodong Sun
    Department of Histology and Embryology, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
    Mol Cell Biochem 349:117-23. 2011
    ..Cardiomyocytes induced by icariin treatment expressed the cardiac-specific proteins myosin light chain-1v (MLC1v), atrial natriuretic polypeptide (ANP), and cardiac troponin I (cTnI)...
  33. doi Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death
    Bo Chang
    Department of Pediatrics, University of Toyama, 2630 Sugitani, Toyama, Japan
    Mol Genet Metab 102:200-6. 2011
    ..for variants in other sarcomeric protein-encoding candidate genes, MYH7, MYBPC3, TNNT2, TNNI3, ACTC, MYL2, and MYL3, did not identify any other non-synonymous variants or variants in splice donor-acceptor sequences that were ..
  34. doi Meta-analysis of genome-wide gene expression differences in onset and maintenance phases of genetic hypertension
    Francine Z Marques
    Basic and Clinical Genomics Laboratory, School of Medical Sciences and Bosch Institute, University of Sydney, Sydney, New South Wales, Australia
    Hypertension 56:319-24. 2010
    ..Genes having possible relevance to hypertension onset included Actn2, Ankrd1, ApoE, Cd36, Csrp3, Me1, Myl3, Nppa, Nppb, Pln, Postn, Spp1, Slc21a4, Slc22a2, Thbs4, and Tnni3...
  35. doi PPARalpha does not suppress muscle-associated gene expression in brown adipocytes but does influence expression of factors that fingerprint the brown adipocyte
    Tomas B Walden
    The Wenner Gren Institute, The Arrhenius Laboratories F3, Stockholm University, SE 106 91 Stockholm, Sweden
    Biochem Biophys Res Commun 397:146-51. 2010
    ..in brown adipose tissue and brown adipocytes from PPARalpha-ablated mice, including structural genes (Mylpf, Tpm2, Myl3 and MyHC), regulatory genes (myogenin, Myf5 and MyoD) and a myomir (miR-206)...
  36. doi Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    Francesca Girolami
    Unit for Genetic Diagnosis, Careggi University Hospital, Florence, Italy
    J Am Coll Cardiol 55:1444-53. 2010
    ..The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort...
  37. doi Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy
    Juan Pablo Kaski
    Inherited Cardiovascular Diseases Unit, Institute of Child Health, University College London, London, United Kingdom
    Circ Cardiovasc Genet 2:436-41. 2009
    ..Familial disease caused by mutations in cardiac sarcomere protein genes, which accounts for most cases in adolescents and adults, is believed to be a very rare cause of HCM...
  38. pmc Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm
    Nelson LopezJimenez
    Division of Genetics, Department of Pediatrics, University of California, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748, USA
    Hum Genet 127:325-36. 2010
    ..004), Myl2, Lrtm1, Myh4, Myl3, Myh7 and Hephl1...
  39. ncbi Multiple isoforms of myosin light chain 1 in pig diaphragm slow fibers: correlation with maximal shortening velocity and force generation
    Peter J Reiser
    Oral Biology, Ohio State University, Columbus, OH 43210, USA
    Arch Biochem Biophys 456:112-8. 2006
    ..expression, with many expressing fast-type MLC1 (MLC1F), as well as two isoforms of slow-type MLC1 (MLC1Sa and MLC1Sb)...
  40. ncbi Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study
    Hiroyuki Morita
    The Program in Genomics Applications CardioGenomics Group Department of Genetics, NRB Room 256, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Circulation 113:2697-705. 2006
    ....
  41. ncbi Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    K Poetter
    Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
    Nat Genet 13:63-9. 1996
    ....
  42. ncbi Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes
    Z Pausova
    Calcium Research Laboratory, McGill University, Montreal, Quebec, Canada
    Genomics 20:20-6. 1994
    ..These three chromosomes share the transferrin gene (TF), the myosin light polypeptide 3 gene (MYL3), and the acylpeptide hydrolase gene (APEH)...
  43. ncbi The major protein expression profile and two-dimensional protein database of human heart
    L I Kovalyov
    Research Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow
    Electrophoresis 16:1160-9. 1995
    ..Each protein was characterized according to several parameters, including molecular weight, isoelectric point, name, partial sequence, subcellular localization, and genetic as well as embryonic changes...
  44. ncbi The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins
    G D Henry
    Eur J Biochem 148:75-82. 1985
    ..1981) Eur. J. Biochem. 121, 213-219]. In particular, a marked reduction in the segmental mobility of the N-terminal region of the alkali light chain was noted, consistent with a direct interaction of this area with actin...
  45. ncbi Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones
    M Kurabayashi
    Third Department of Internal Medicine, University of Tokyo, Japan
    J Biol Chem 263:13930-6. 1988
    We have isolated essentially full-length cDNA clones for atrial (ALC1) and ventricular (VLC1) myosin alkali light chains from a human fetal heart cDNA library...
  46. pmc Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1
    E Hoffmann
    Department of Clinical Biochemistry, University of Toronto, Edmonton, Canada
    Nucleic Acids Res 16:2353. 1988
  47. pmc Promoter analysis of myosin alkali light chain genes expressed in mouse striated muscle
    A Cohen
    Departement de Biologie Moleculaire, Institut Pasteur, Paris, France
    Nucleic Acids Res 16:10037-52. 1988
    ..The skeletal muscle gene MLC1F/MLC3F, the ventricular muscle/slow skeletal muscle gene MLC1V(MLC1S), and the atrial muscle/foetal striated muscle gene MLC1A(MLC1emb)...
  48. ncbi Structure and sequence of the myosin alkali light chain gene expressed in adult cardiac atria and fetal striated muscle
    P J Barton
    Departement de Biologie Moleculaire, Institut Pasteur, Paris, France
    J Biol Chem 263:12669-76. 1988
    ..two myosin alkali light chains which are the major isoforms present in either atrial (MLC1A) or ventricular (MLC1V) muscle, and which are different from the fast skeletal muscle isoforms (MLC1F and MLC3F)...
  49. pmc Characterization of a rat myosin alkali light chain gene expressed in ventricular and slow twitch skeletal muscles
    M Periasamy
    Department of Physiology and Biophysics, University of Vermont College of Medicine, Burlington 05405
    Nucleic Acids Res 17:7723-34. 1989
    ..contains two myosin alkali light chains: 1) the atrial light chain (MLC1A), and 2) the ventricular light chain (MLC1V) predominantly expressed either in the atrium or in the ventricle...
  50. ncbi Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)
    O Cohen-Haguenauer
    Unité de Recherches de Génétique Médicale INSERM U 12, Clinique Maurice Lamy, Hopital des Enfants Malades, Paris, France
    Hum Genet 81:278-82. 1989
    ..of two loci encoding the ventricular muscle isoform MLC1V (equivalent to the slow skeletal muscle isoform MLC1Sb) and the atrial muscle isoform MLC1A (equivalent to the fetal isoform MLC1emb) using a panel of 25 independent man-..
  51. ncbi Chromosomal rearrangement generating a composite gene for a developmental transcription factor
    P Stragier
    Department of Cellular and Developmental Biology, Harvard University, Cambridge, MA 02138
    Science 243:507-12. 1989
    ....
  52. pmc The expression of myosin genes in developing skeletal muscle in the mouse embryo
    G E Lyons
    Department of Molecular Biology, U R A CNRS 1148, Pasteur Institute, Paris, France
    J Cell Biol 111:1465-76. 1990
    ..5 d p.c., MLC1F is the predominant MLC transcript detected. Transcripts for the ventricular/slow (MLC1V) and another fast skeletal myosin light chain (MLC3F) are not detected in skeletal muscle before 15 d p.c...
  53. ncbi Asparaginyl deamidation-methylation of rat ventricular myosin light chains
    E M Cassidy
    Department of Medicine, Loyola University Stritch School of Medicine, Maywood, IL 60153
    J Mol Cell Cardiol 23:589-601. 1991
    ..proteins are subject to spontaneous deamidation damage in vitro, purified rat ventricular myosin light chain 1 (MLC1v) and phosphorylatable myosin light chain 2 (MPLC2v) were incubated (37 degrees C, 4 h, pH 2-11), and tested as ..
  54. ncbi The intracompartmental sorting of myosin alkali light chain isoproteins reflects the sequence of developmental expression as determined by double epitope-tagging competition
    M Komiyama
    Institute for Cell Biology, Swiss Federal Institute of Technology, Zurich, Switzerland
    J Cell Sci 109:2089-99. 1996
    ..sorting specificity of MLC isoforms to sarcomeric sites was shown to increase in the order MLC3nm, to ML1sa, to MLC1sb, to MLC1f and MLC3f following the sequence of developmental expression...
  55. ncbi Role of the nerve in determining fetal skeletal muscle phenotype
    C H Washabaugh
    Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
    Dev Dyn 211:177-90. 1998
    ..suggest that: (1) the absence of the nerve to either future fast or slow muscles results in less accumulation of MLC1V transcript...
  56. ncbi Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms
    M C Schaub
    Institute of Pharmacology, University of Zurich, Switzerland
    Cardiovasc Res 37:381-404. 1998
    ..expression of the atrial myosin essential light chain (ALC1) partially replaces the endogenous ventricular isoform (VLC1)...
  57. ncbi Left and right ventricular contributions to the formation of the interventricular septum in the mouse heart
    Diego Franco
    Department of Experimental Biology, Faculty of Experimental Sciences, University of Jaen, 23071 Jaen, Spain
    Dev Biol 294:366-75. 2006
    ..mouse lines that display complementary nlacZ reporter gene expression patterns in the embryonic ventricles: the Mlc1v-nlacZ-24 transgene is expressed in right ventricular myocardium and the Mlc3f-nlacZ-2 transgene in left ..
  58. pmc Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
    J Ingles
    J Med Genet 42:e59. 2005
    ..To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM)...
  59. ncbi The MLC1v gene provides a transgenic marker of myocardium formation within developing chambers of the Xenopus heart
    Stuart J Smith
    Division of Developmental Biology, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, United Kingdom
    Dev Dyn 232:1003-12. 2005
    ..To achieve this end, we have used the active promoter of the MLC1v gene to drive expression of green fluorescent protein (GFP) in the developing tadpole heart...
  60. ncbi Identification of direct serum-response factor gene targets during Me2SO-induced P19 cardiac cell differentiation
    Shu Xing Zhang
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 280:19115-26. 2005
    ..The 12 regulated SRF target genes, Mapk10 (JNK3), Txnl2, Azi2, Tera, Sema3a, Lrp4, Actc1, Myl3, Hspg2, Pgm2, Hif3a, and Asb5, have been implicated in cardiovascular formation, and the Ski and Hes6 genes have ..
  61. ncbi [Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review]
    Carlos Darío Ramírez
    Departamento de Biología Estructural, Instituto Venezolano de Investigaciones Cientificas IVIC, Universidad Central de Venezuela, Caracas, Venezuela
    Invest Clin 45:69-99. 2004
    ..TPM1), myosin binding protein-C (MYBPC3), cardiac troponin (TNNI3), essential and regulatory light chain genes (MYL3 and MYL2, respectively), cardiac alpha-actin gene (ACTC) and titin (TTN)...
  62. ncbi The functional domains of human ventricular myosin light chain 1
    Baotong Xie
    Key Laboratory of Proteomics, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, PR China
    Biophys Chem 106:57-66. 2003
    ..We conclude that the N-fragment is the binding domain of human ventricular LC1, whereas the C-fragment serves as a functional domain, which may be more involved in the modulation of the actin-activated ATPase activity of myosin...
  63. ncbi [The mouse as a model for heart morphogenesis in mammals: the origin of myocytes and studies with cardiac explants]
    Stephane Zaffran
    CNRS URA 2578, Departement de Biologie du Developpement, Institut Pasteur, 25, rue du Dr Roux, Paris, 75015 France
    J Soc Biol 197:187-94. 2003
    ..The study of transgenic mouse lines, Mlc1v-nlacZ-24 and Mlc3f-nlacZ-2, has led to the identification of a new precardiac territory, the anterior heart field, ..
  64. ncbi Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    Pascale Richard
    UF de Cardiogénétique et Myogénétique, Service de Biochimie B, Hopital de la Salpetriere, 47 Bld de l Hopital, 75651 Paris Cedex 13, France
    Circulation 107:2227-32. 2003
    ..The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice...
  65. ncbi High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method
    Paal Skytt Andersen
    Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
    Hum Mutat 21:116-22. 2003
    ..CAE-SSCP by 1) comparing detection by slab-gel based SSCP with CAE-SSCP of mutations in the MYH7, MYL2, and MYL3 genes encoding sarcomere proteins from patients suffering from hypertrophic cardiomyopathy; and 2) by constructing ..
  66. ncbi Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy
    Zhyldyz T Kabaeva
    Charité Kardiologie, Campus Buch und Virchow Klinikum, Humboldt Universitat zu Berlin, Germany
    Eur J Hum Genet 10:741-8. 2002
    ..unrelated individuals with HCM for the human ventricular myosin regulatory (MYL2) and essential light chain genes (MYL3) using polymerase chain reaction, single strand conformation polymorphism analysis and automated sequencing...
  67. pmc Essential myosin light chain as a target for caspase-3 in failing myocardium
    Alessandra Moretti
    I Medizinische Klinik and Deutsches Herzzentrum, D 81675 Munich, Germany
    Proc Natl Acad Sci U S A 99:11860-5. 2002
    ..Therefore, activation of apoptotic pathways in the heart may lead to contractile dysfunction before cell death...
  68. ncbi Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology
    Timothy M Olson
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    Circulation 105:2337-40. 2002
    ..Autosomal dominant hypertrophic cardiomyopathy (HCM) is caused by inherited defects of sarcomeric proteins. We tested the hypothesis that homozygosity for a sarcomeric protein defect can cause recessive HCM...
  69. pmc Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
    P S Andersen
    J Med Genet 38:E43. 2001
  70. ncbi Localization of 17-kDa myosin light chain isoforms in cultured aortic smooth muscle cells
    K Takeuchi
    Osaka Prefectural College of Health Science, Habikino, Osaka, 583 0872, Japan
    J Biochem 125:334-42. 1999
    ..These results support the suggestion that myosin containing LC17gi is essential for force-generation by aortic smooth muscle and that myosin containing LC17nm may play an important role in maintaining smooth muscle tension...
  71. ncbi Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene
    Q Shi
    Toronto Hospital General Division, Ontario, Canada
    J Mol Cell Cardiol 24:1221-9. 1992
    ..But this mechanism remains to be established...

Research Grants12

  1. Identification of Disease Genes for Atrial Fibrillation
    Timothy Olson; Fiscal Year: 2009
    ..The long-term objectives of this work are to gain new insights into molecular mechanisms of arrhythmogenesis and to improve prediction, prevention, and treatment of AF. ..
  2. Mapping Novel Disease Genes for Dilated Cardiomyopathy
    Timothy Olson; Fiscal Year: 2007
    ..Discovering the genetic basis of DCM will lead to better ways to diagnose and prevent the progressive weakening of heart muscle that afflicts patients with this disorder. ..
  3. Identification of Disease Genes for Atrial Fibrillation
    Timothy Olson; Fiscal Year: 2007
    ..The long-term objectives of this work are to gain new insights into molecular mechanisms of arrhythmogenesis and to improve prediction, prevention, and treatment of AF. ..
  4. Mapping Novel Disease Genes for Dilated Cardiomyopathy
    Timothy Olson; Fiscal Year: 2004
    ..The long-term objectives of this work are to gain new insights into molecular mechanisms for heart failure and to improve prediction, prevention, and treatment of DCM. ..
  5. Mapping Novel Disease Genes for Dilated Cardiomyopathy
    TIMOTHY MARK OLSON; Fiscal Year: 2010
    ..Discovering the genetic basis of DCM will lead to better ways to diagnose and prevent the progressive weakening of heart muscle that afflicts patients with this disorder. ..