Genomes and Genes
Experts and Doctors on myosins in Paris, Île de France, France
Locale: Paris, Île de France, France
- Cox R, Buckingham M. Actin and myosin genes are transcriptionally regulated during mouse skeletal muscle development. Dev Biol. 1992;149:228-34 pubmed..Notably, transcription from the MLC3F promoter is activated after that of the MLC1F promoter, which is part of the same gene. These results are discussed in the context of published RNA data. ..
- Kelly R, Alonso S, Tajbakhsh S, Cossu G, Buckingham M. Myosin light chain 3F regulatory sequences confer regionalized cardiac and skeletal muscle expression in transgenic mice. J Cell Biol. 1995;129:383-96 pubmed..We show here that transgene-directed expression of the MLC3F promoter reflects low level expression of endogenous MLC3F transcripts in the mouse heart. ..
- Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60-1 pubmed..Thus USH1B appears as a primary cytoskeletal protein defect. These results implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome. ..
- Soussi Yanicostas N, Whalen R, Petit C. Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. Hum Mol Genet. 1993;2:563-9 pubmed..These data represent the first direct evidence for the existence in the human genome of a MyHC multigene locus that contains at least five genes. ..
- Etournay R, Zwaenepoel I, Perfettini I, Legrain P, Petit C, El Amraoui A. Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions. J Cell Sci. 2007;120:2838-50 pubmed
- Barton P, Robert B, Cohen A, Garner I, Sassoon D, Weydert A, et al. Structure and sequence of the myosin alkali light chain gene expressed in adult cardiac atria and fetal striated muscle. J Biol Chem. 1988;263:12669-76 pubmed
- Goblet C, Whalen R. Modifications of gene expression in myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors. Dev Biol. 1995;170:262-73 pubmed..These observations suggest that specific myogenic factors may be linked to the expression of individual MyHC genes and that abnormal expression of some of the factors may be associated with myotonic muscle pathology...
- Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25:173-6 pubmed..RAB27A appears to be a key effector of cytotoxic granule exocytosis, a pathway essential for immune homeostasis. ..
- Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, et al. Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol. 2012;199:381-99 pubmed publisher..We suggest that USH1 proteins form an adhesion belt around the basolateral region of the photoreceptor outer segment in humans, and that defects in this structure cause the retinal degeneration in USH1 patients. ..
- Djouadi F, Lecarpentier Y, Hebert J, Charron P, Bastin J, Coirault C. A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res. 2009;84:83-90 pubmed publisher..ARVC is associated with major disturbances in the PPARalpha and PPARgamma signalling pathway in the RV that may contribute to intracellular lipid overload and severe myosin dysfunction. ..
- Lyons G, Ontell M, Cox R, Sassoon D, Buckingham M. The expression of myosin genes in developing skeletal muscle in the mouse embryo. J Cell Biol. 1990;111:1465-76 pubmed..The data presented are the first detailed study of myosin gene expression at these early stages of skeletal muscle development. ..
- Jullian E, Kelly A, Pompidou A, Hoffman R, Schiaffino S, Stedman H, et al. Characterization of a human perinatal myosin heavy-chain transcript. Eur J Biochem. 1995;230:1001-6 pubmed..Restriction fragment-length polymorphism analysis failed to find the previously described perinatal isoform in any sample. ..
- Cohen A, Barton P, Robert B, Garner I, Alonso S, Buckingham M. Promoter analysis of myosin alkali light chain genes expressed in mouse striated muscle. Nucleic Acids Res. 1988;16:10037-52 pubmed..Among these is an "MLC-sequence" (CCTTTTATAG) common to all MLC genes, including those of chick and rat, and a "cardiac sequence" common to the mouse MLC1A, MLC1V and alpha-cardiac actin genes expressed in the heart. ..
- Cohen Haguenauer O, Barton P, Nguyen V, Serero S, Gross M, Jegou Foubert C, et al. Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter. Hum Genet. 1988;78:65-70 pubmed..7-kb TaqI fragment corresponds indeed to a functional gene. ..
- Bonnet A, Lambert G, Ernest S, Dutrieux F, Coulpier F, Lemoine S, et al. Quaking RNA-Binding Proteins Control Early Myofibril Formation by Modulating Tropomyosin. Dev Cell. 2017;42:527-541.e4 pubmed publisher..Our work uncovers a Quaking/Tpm3 pathway controlling de novo myofibril assembly. This unexpected developmental role for Tpm3 could be at the origin of muscle defects observed in human congenital myopathies associated with tpm3 mutation. ..
- Etournay R, El Amraoui A, Bahloul A, Blanchard S, Roux I, Pezeron G, et al. PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa. J Cell Sci. 2005;118:2891-9 pubmed..Moreover, as both myosins have been implicated in the mechanotransduction slow adaptation process that takes place in the hair bundles, we propose that PHR1 is also involved in this process. ..
- Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El Amraoui A, et al. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet. 2005;14:401-10 pubmed..The interaction between whirlin and NGL-1 might be involved in the stabilization of interstereociliar links. ..
- Ernest S, Rauch G, Haffter P, Geisler R, Petit C, Nicolson T. Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. Hum Mol Genet. 2000;9:2189-96 pubmed..Thus, this study demonstrates the striking conservation of the function of Myosin VIIA throughout vertebrate evolution and establishes mariner as the first fish model for human hereditary deafness. ..
- Sahly I, El Amraoui A, Abitbol M, Petit C, Dufier J. Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl). 1997;196:159-70 pubmed..The cellular location of myosin VIIA within sensory hair cells and olfactory receptor neurons also argues for a role of this protein in the synaptic vesicle trafficking. ..
- Fougerousse F, Dufour C, Roudaut C, Beckmann J. Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6). Hum Mol Genet. 1992;1:64 pubmed
- Ménétrey J, Isabet T, Ropars V, Mukherjea M, Pylypenko O, Liu X, et al. Processive steps in the reverse direction require uncoupling of the lead head lever arm of myosin VI. Mol Cell. 2012;48:75-86 pubmed publisher..The model reveals that myosin VI, unlike plus-end directed myosins, does not use a pure lever arm mechanism, but instead steps with a mechanism analogous to the kinesin neck-linker uncoupling model. ..
- Weil D, Levy G, Sahly I, Levi Acobas F, Blanchard S, El Amraoui A, et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci U S A. 1996;93:3232-7 pubmed..We suggest that deafness and vestibular dysfunction in USH1B patients result from a defect in the morphogenesis of the inner ear sensory cell stereocilia. ..
- El Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet. 1996;5:1171-8 pubmed..Therefore, we suggest that myosin VIIA might play a role in the trafficking of ribbon-synaptic vesicle complexes and the renewal processes of the outer photoreceptor disks. ..
- Bonnet C, El Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012;25:42-9 pubmed publisher..Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect. ..
- Franco C, Blanc J, Parlakian A, Blanco R, Aspalter I, Kazakova N, et al. SRF selectively controls tip cell invasive behavior in angiogenesis. Development. 2013;140:2321-33 pubmed publisher..We hypothesize that targeting the SRF pathway could provide an opportunity to selectively target tip cell filopodia-driven angiogenesis to restrict tumor growth. ..
- Allenbach Y, Solly S, Gregoire S, Dubourg O, Salomon B, Butler Browne G, et al. Role of regulatory T cells in a new mouse model of experimental autoimmune myositis. Am J Pathol. 2009;174:989-98 pubmed publisher..Thus, experimental autoimmune myositis is a reproducible, transferable disease in mice, both aggravated by Treg depletion and improved by polyclonal Treg injection...
- Weil D, Küssel P, Blanchard S, Levy G, Levi Acobas F, Drira M, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997;16:191-3 pubmed..Accordingly, this result shows that different mutations in MYO7A result in either an isolated or a syndromic form of deafness. ..
- Levy G, Levi Acobas F, Blanchard S, Gerber S, Larget Piet D, Chenal V, et al. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet. 1997;6:111-6 pubmed..Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome. ..
- Durrbach A, Collins K, Matsudaira P, Louvard D, Coudrier E. Brush border myosin-I truncated in the motor domain impairs the distribution and the function of endocytic compartments in an hepatoma cell line. Proc Natl Acad Sci U S A. 1996;93:7053-8 pubmed..We propose that an unidentified myosin-I might contribute to the distribution of endocytic compartments in a juxtanuclear position and/or to the regulation of the delivery of ligands to the degradative compartment in BWTG3 cells. ..
- Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, et al. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest. 1993;92:2807-13 pubmed..Our results also indicate that codon 403 of the beta-myosin heavy chain gene is a hot spot for mutations causing FHC. ..
- Arhets P, Gounon P, Sansonetti P, Guillen N. Myosin II is involved in capping and uroid formation in the human pathogen Entamoeba histolytica. Infect Immun. 1995;63:4358-67 pubmed
- Cohen Haguenauer O, Barton P, Van Cong N, Cohen A, Masset M, Buckingham M, et al. Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). Hum Genet. 1989;81:278-82 pubmed..These data are in keeping with the localizations of the MLC1V gene to mouse chromosome 9, and of the MLC1A gene to mouse chromosome 11, which share some markers in common with human chromosomes 3 and 17 respectively. ..
- Cox R, Weydert A, Barlow D, Buckingham M. Three linked myosin heavy chain genes clustered within 370 kb of each other show independent transcriptional and post-transcriptional regulation during differentiation of a mouse muscle cell line. Dev Biol. 1991;143:36-43 pubmed..Post-transcriptional mechanisms also regulate cytoplasmic RNA accumulation of these MHC genes. ..
- Takeda S, North D, Lakich M, Russell S, Whalen R. A possible regulatory role for conserved promoter motifs in an adult-specific muscle myosin gene from mouse. J Biol Chem. 1992;267:16957-67 pubmed..These observations suggest an important functional role for these AT-rich sequence motifs in the regulation of genes of the MHC family. ..