Myo7a

Summary

Gene Symbol: Myo7a
Description: myosin VIIA
Alias: Hdb, Myo7, USH1B, nmf371, polka, sh-1, sh1, unconventional myosin-VIIa, motor protein, myosin-VIIa, shaker 1
Species: mouse

Top Publications

  1. pmc The small GTPase Rac1 regulates auditory hair cell morphogenesis
    Cynthia M Grimsley-Myers
    Department of Cell Biology, University of Virginia, Charlottesville, Virginia 22908, USA
    J Neurosci 29:15859-69. 2009
  2. ncbi Asymmetric distribution of prickle-like 2 reveals an early underlying polarization of vestibular sensory epithelia in the inner ear
    Michael R Deans
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 27:3139-47. 2007
  3. ncbi The Notch ligands DLL1 and JAG2 act synergistically to regulate hair cell development in the mammalian inner ear
    Amy E Kiernan
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Development 132:4353-62. 2005
  4. pmc Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
    Mathias Senften
    Department of Cell Biology, The Scripps Research Institute, Institute for Childhood and Neglected Disease, La Jolla, California 92037, USA
    J Neurosci 26:2060-71. 2006
  5. ncbi Interactions in the network of Usher syndrome type 1 proteins
    Avital Adato
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 14:347-56. 2005
  6. pmc A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells
    Martin Schwander
    Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
    J Neurosci 29:15810-8. 2009
  7. pmc Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes
    Daniel Gibbs
    Department of Pharmacology, UCSD School of Medicine, La Jolla, CA 92093 0912, USA
    J Cell Sci 117:6473-83. 2004
  8. ncbi Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
    X Liu
    Nat Genet 19:117-8. 1998
  9. ncbi Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV
    Giovanna Bossi
    Sir William Dunn School of Pathology, South Parks Road, Oxford, OX1 3RE, UK
    Traffic 6:243-51. 2005
  10. pmc Foxg1 is required for morphogenesis and histogenesis of the mammalian inner ear
    Sarah Pauley
    Creighton University, Department of Biomedical Sciences, Omaha, Nebraska 68178, USA
    Dev Dyn 235:2470-82. 2006

Research Grants

  1. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
  2. Mutagenesis of the Mammalian Imprinting Process(es)
    Eugene Rinchik; Fiscal Year: 2002
  3. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
  4. The cell cycle in ototoxin induced hair cell death.
    Neil Segil; Fiscal Year: 2007
  5. DISSECTING THE EAR NEUROSENSORY DEVELOPMENT.
    Bernd Fritzsch; Fiscal Year: 2010
  6. Marking hair cell progenitors with BAC transgenics
    Neil Segil; Fiscal Year: 2004
  7. Myosin VI in Postsynaptic Function and Plasticity
    Emily Osterweil; Fiscal Year: 2004
  8. Afferent Innervation of the Postnatal Cochlea
    CLIFFORD HUME; Fiscal Year: 2008
  9. FGF in sensory system development
    OLIVIA MARY BERMINGHAM MCDONOGH; Fiscal Year: 2010

Scientific Experts

Detail Information

Publications131 found, 100 shown here

  1. pmc The small GTPase Rac1 regulates auditory hair cell morphogenesis
    Cynthia M Grimsley-Myers
    Department of Cell Biology, University of Virginia, Charlottesville, Virginia 22908, USA
    J Neurosci 29:15859-69. 2009
    ..Together, these results reveal a critical function of Rac1 in morphogenesis of the auditory sensory epithelium and stereociliary bundle...
  2. ncbi Asymmetric distribution of prickle-like 2 reveals an early underlying polarization of vestibular sensory epithelia in the inner ear
    Michael R Deans
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 27:3139-47. 2007
    ....
  3. ncbi The Notch ligands DLL1 and JAG2 act synergistically to regulate hair cell development in the mammalian inner ear
    Amy E Kiernan
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Development 132:4353-62. 2005
    ..Our results demonstrate that the Notch pathway plays a dual role in regulating cellular differentiation and patterning in the cochlea, acting both through lateral inhibition and the control of cellular proliferation...
  4. pmc Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
    Mathias Senften
    Department of Cell Biology, The Scripps Research Institute, Institute for Childhood and Neglected Disease, La Jolla, California 92037, USA
    J Neurosci 26:2060-71. 2006
    ..gene products that have been associated with deafness and hair bundle defects, protocadherin 15 (PCDH15) and myosin VIIa (MYO7A), into a common pathway...
  5. ncbi Interactions in the network of Usher syndrome type 1 proteins
    Avital Adato
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 14:347-56. 2005
    Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1)...
  6. pmc A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells
    Martin Schwander
    Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
    J Neurosci 29:15810-8. 2009
    Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11)...
  7. pmc Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes
    Daniel Gibbs
    Department of Pharmacology, UCSD School of Medicine, La Jolla, CA 92093 0912, USA
    J Cell Sci 117:6473-83. 2004
    b>Myosin VIIa functions in the outer retina, and loss of this function causes human blindness in Usher syndrome type 1B (USH1B). In mice with mutant Myo7a, melanosomes in the retinal pigmented epithelium (RPE) are distributed abnormally...
  8. ncbi Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
    X Liu
    Nat Genet 19:117-8. 1998
  9. ncbi Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV
    Giovanna Bossi
    Sir William Dunn School of Pathology, South Parks Road, Oxford, OX1 3RE, UK
    Traffic 6:243-51. 2005
    ..These results reveal differences in the protein machinery required for biogenesis and/or secretion of lysosome-related organelles in CTL and melanocytes...
  10. pmc Foxg1 is required for morphogenesis and histogenesis of the mammalian inner ear
    Sarah Pauley
    Creighton University, Department of Biomedical Sciences, Omaha, Nebraska 68178, USA
    Dev Dyn 235:2470-82. 2006
    ..Much of the Foxg1 phenotype can be explained by the participation of the protein binding domain in the delta/notch/hes signaling pathway. Additional Foxg1 effects may be mediated by the forkhead DNA binding domain...
  11. ncbi Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions
    Raphaël Etournay
    INSERM UMRS 587, Unité de Génétique des Déficits Sensoriels, Institut Pasteur, 25 rue du Dr Roux, 75015 Paris, France
    J Cell Sci 120:2838-50. 2007
    Defects in myosin VIIa lead to developmental anomalies of the auditory and visual sensory cells. We sought proteins interacting with the myosin VIIa tail by using the yeast two-hybrid system...
  12. pmc Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
    T Hasson
    Department of Biology, Yale University, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 92:9815-9. 1995
    b>Myosin VIIa is a newly identified member of the myosin superfamily of actin-based motors. Recently, the myosin VIIa gene was identified as the gene defective in shaker-1, a recessive deafness in mice [Gibson, F., Walsh, J., Mburu, P...
  13. ncbi Defective myosin VIIA gene responsible for Usher syndrome type 1B
    D Weil
    Unité de Génétique Moléculaire Humaine URA CNRS 1968, Institut Pasteur, Paris, France
    Nature 374:60-1. 1995
    ..Here we present evidence that a gene encoding myosin VIIA is responsible for USH1B...
  14. ncbi A type VII myosin encoded by the mouse deafness gene shaker-1
    F Gibson
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, Imperial College of Science, Technology and Medicine, London, UK
    Nature 374:62-4. 1995
    ..Here we report the identification of one such gene, the mouse shaker-1 (sh1) gene...
  15. ncbi Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
    A El-Amraoui
    Unite de Genetique Moleculaire Humaine, Centre National de la Recherche Scientifique Unite de Recherche Associee 1968, Institut Pasteur, Paris, France
    Hum Mol Genet 5:1171-8. 1996
    ..The gene encoding myosin VIIA is responsible for USH1B...
  16. ncbi Shaker mice and a peek into the House of Usher
    D Saw
    Medical Research Council, Mouse Genome Centre, Harwell, Didcot, Oxfordshire, United Kingdom
    Exp Anim 46:1-9. 1997
  17. ncbi Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
    X Z Liu
    MRC Mouse Genome Centre, Harwell, Oxfordshire, UK
    Nat Genet 16:188-90. 1997
    ..Recently, it has been shown that a gene encoding an unconventional myosin, myosin VIIA, underlies the mouse recessive deafness mutation, shaker-1 (ref. 5) as well as Usher syndrome type 1b...
  18. ncbi Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression
    T Hasson
    Department of Biology, Yale University, New Haven, Connecticut 06520, USA
    Cell Motil Cytoskeleton 37:127-38. 1997
    ..myosin, myosin-VIIa, were found to be the basis for the deafness and vestibular dysfunction observed in shaker-1 (sh1) mice and for a human deafness-blindness syndrome, Usher syndrome type 1B...
  19. ncbi Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
    T Self
    MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD, UK
    Development 125:557-66. 1998
    The mouse shaker-1 locus, Myo7a, encodes myosin VIIA and mutations in the orthologous gene in humans cause Usher syndrome type 1B or non-syndromic deafness. Myo7a is expressed very early in sensory hair cell development in the inner ear...
  20. ncbi Mutation analysis of the mouse myosin VIIA deafness gene
    P Mburu
    MRC Mouse Genome Centre, Harwell, UK
    Genes Funct 1:191-203. 1997
    The shaker-1 (Myo7a) mouse deafness locus is encoded by an unconventional myosin gene: myosin VIIA [Gibson, Walsh, Mburu, Varela, Brown, Antonio, Biesel, Steel and Brown (1995) Nature (London) 374, 62-64]...
  21. ncbi Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells
    M Xiang
    Center for Advanced Biotechnology and Medicine, Department of Pediatrics, UMDNJ Robert Wood Johnson Medical School, Piscataway, New Jersey 08854, USA
    Development 125:3935-46. 1998
    ..These data indicate a crucial role for Brn-3c in maturation, survival and migration of hair cells, but not in proliferation or commitment of hair cell progenitors...
  22. ncbi p27(Kip1) links cell proliferation to morphogenesis in the developing organ of Corti
    P Chen
    Department of Cell and Molecular Biology, House Ear Institute, Los Angeles, CA 90057, USA
    Development 126:1581-90. 1999
    ..Homozygous mutant mice are severely hearing impaired. Thus, p27(Kip1) provides a link between developmental control of cell proliferation and the morphological development of the inner ear...
  23. ncbi Myosin VIIa participates in opsin transport through the photoreceptor cilium
    X Liu
    Departments of Pharmacology and Neurosciences, University of California at San Diego School of Medicine, La Jolla, California 92093 0983, USA
    J Neurosci 19:6267-74. 1999
    Two types of Usher syndrome, a blindness-deafness disorder, result from mutations in the myosin VIIa gene. As for most other unconventional myosins, little is known about the function or functions of myosin VIIa...
  24. ncbi Hes1 and Hes5 activities are required for the normal development of the hair cells in the mammalian inner ear
    A Zine
    Institute of Physiology, University of Lausanne, 1005 Lausanne, Switzerland
    J Neurosci 21:4712-20. 2001
    ..These data indicate that Hes1 and Hes5 participate together for the control of inner ear hair cell production, likely through the negative regulation of Math1...
  25. ncbi Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations
    C J Kros
    School of Biological Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK
    Nat Neurosci 5:41-7. 2002
    ..Transducer currents also adapt more strongly than normal to excitatory stimuli. We conclude that myosin VIIA participates in anchoring and holding membrane-bound elements to the actin core of the stereocilium...
  26. ncbi Actin-based motor properties of native myosin VIIa
    Igor P Udovichenko
    Department of Pharmacology, UCSD School of Medicine, La Jolla, California 92093 0983, USA
    J Cell Sci 115:445-50. 2002
    b>Myosin VIIa has critical roles in the inner ear and the retina. To help understand how this protein functions, native myosin VIIa was tested for mechanoenzymatic properties...
  27. ncbi The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination
    Ping Chen
    Gonda Department of Cell and Molecular Biology, House Ear Institute, Los Angeles, CA 90057, USA
    Development 129:2495-505. 2002
    ....
  28. ncbi Hearing loss caused by progressive degeneration of cochlear hair cells in mice deficient for the Barhl1 homeobox gene
    Shengguo Li
    Center for Advanced Biotechnology and Medicine and Department of Pediatrics, UMDNJ Robert Wood Johnson Medical School, 679 Hoes Lane, Piscataway, NJ 08854, USA
    Development 129:3523-32. 2002
    ..Our data together indicate an essential role for Barhl1 in the long-term maintenance of cochlear hair cells, but not in the determination or differentiation of these cells...
  29. ncbi Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice
    Ralph H Holme
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, UK
    Hear Res 169:13-23. 2002
    Mutations in myosin VIIa (Myo7a) and cadherin 23 (Cdh23) cause deafness in shaker1 (sh1) and waltzer (v) mouse mutants respectively...
  30. pmc Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    Batiste Boëda
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    EMBO J 21:6689-99. 2002
    Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23...
  31. ncbi Progressive hearing loss in mice lacking the cyclin-dependent kinase inhibitor Ink4d
    Ping Chen
    Gonda Department of Cell and Molecular Biology, House Ear Institute, 2100 W 3rd St, Fifth Floor, Los Angeles, CA 90057, USA
    Nat Cell Biol 5:422-6. 2003
    ..Our results identify a novel mechanism underlying a non-syndromic form of progressive hearing loss in mice...
  32. pmc Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein
    Daniel Gibbs
    Department of Pharmacology, School of Medicine, University of California at San Diego, La Jolla 92093 0912, USA
    Proc Natl Acad Sci U S A 100:6481-6. 2003
    Mutations in the myosin VIIa gene (MYO7A) cause Usher syndrome type 1B (USH1B), a major type of the deaf-blind disorder, Usher syndrome...
  33. ncbi Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    Philomena Mburu
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Nat Genet 34:421-8. 2003
    ..Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia...
  34. ncbi Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia
    I Jill Karolyi
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0638, USA
    Hum Mol Genet 12:2797-805. 2003
    The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice...
  35. ncbi A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles
    R J Goodyear
    School of Biological Sciences, University of Sussex, Falmer, Brighton, BN1 9QG, United Kingdom
    J Neurosci 23:9208-19. 2003
    ..These results reveal that Ptprq is required for formation of the shaft connectors of the hair bundle, the normal maturation of cochlear hair bundles, and the long-term survival of high-frequency auditory hair cells...
  36. ncbi Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
    Ronna Hertzano
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Hum Mol Genet 13:2143-53. 2004
    ..These results identify Gfi1 as the first downstream target of a hair cell specific transcription factor and suggest that outer hair cell degeneration in Pou4f3 mutants is largely or entirely a result of the loss of expression of Gfi1...
  37. ncbi A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment
    Charlotte R Rhodes
    MRC Institute of Hearing Research, University Park, NG7 2RD, Nottingham, UK
    Mamm Genome 15:686-97. 2004
    ..Protein analysis revealed reduced levels of myosin VIIa expression in inner ears of headbanger mice...
  38. ncbi Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
    Benjamin Delprat
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, Cedex 15, France
    Hum Mol Genet 14:401-10. 2005
    ..Notably, whirlin also interacts with myosin VIIa that is present along the entire length of the stereocilia...
  39. pmc The retinoblastoma gene pathway regulates the postmitotic state of hair cells of the mouse inner ear
    Johanna Mantela
    Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland
    Development 132:2377-88. 2005
    ..Our findings demonstrate that the pRb pathway is required for hair cell quiescence and that manipulation of the cell cycle machinery disrupts the coordinated development within the inner ear sensory epithelia...
  40. ncbi Sox2 is required for sensory organ development in the mammalian inner ear
    Amy E Kiernan
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, UK
    Nature 434:1031-5. 2005
    ....
  41. pmc The Notch ligand JAG1 is required for sensory progenitor development in the mammalian inner ear
    Amy E Kiernan
    The Jackson Laboratory, Bar Harbor, Maine, USA
    PLoS Genet 2:e4. 2006
    ..These data demonstrate that JAG1-mediated Notch signaling is essential during early development for establishing the prosensory regions of the inner ear...
  42. pmc Expression of Prox1 during mouse cochlear development
    Olivia Bermingham-McDonogh
    Virginia Merrill Bloedel Hearing Research Center and Department of Otolaryngology, University of Washington School of Medicine, Seattle, Washington 98195, USA
    J Comp Neurol 496:172-86. 2006
    ..Expression is down regulated in maturing (myosin VIIA immunoreactive) vestibular hair cells and subsequently in the underlying support cell layer by E16.5...
  43. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan Reiners
    Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
    Exp Eye Res 83:97-119. 2006
    ..There are five known USH1 molecules: the molecular motor myosin VIIa (USH1B); the two cell-cell adhesion cadherin proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and ..
  44. ncbi A morphogenetic wave of p27Kip1 transcription directs cell cycle exit during organ of Corti development
    Yun Shain Lee
    Gonda Department of Cell and Molecular Biology, House Ear Institute, 2100 West 3rd Street, Los Angeles, CA 90057, USA
    Development 133:2817-26. 2006
    ..This report establishes a link between the spatial and temporal pattern of p27(Kip1) transcription and the control of cell number during sensory organ morphogenesis...
  45. ncbi Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti
    Toshinori Hayashi
    Virginia Merrill Bloedel Hearing Research Center, Department of Otolaryngology HNS, University of Washington, Seattle, Washington 98195, USA
    Dev Dyn 236:525-33. 2007
    ..Thus, in addition to controlling the fate decision between pillar cells and Deiters' cells, we find that Fgfr3 also regulates the width of the sensory epithelium...
  46. ncbi Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B
    T Hashimoto
    Jules Stein Eye Institute, Molecular Biology Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Gene Ther 14:584-94. 2007
    ..Mutations in the myosin VIIa gene (MYO7A) cause a major subtype of Usher syndrome, type 1B...
  47. pmc Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia
    Haydn M Prosser
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Mol Cell Biol 28:1702-12. 2008
    We have developed a bacterial artificial chromosome transgenesis approach that allowed the expression of myosin VIIa from the mouse X chromosome...
  48. doi A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
    Gaelle Lefevre
    Unité de Génétique des Déficits Sensoriels, UMRS587 INSERM Université Paris VI, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Development 135:1427-37. 2008
    ..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital ..
  49. doi Prox1 interacts with Atoh1 and Gfi1, and regulates cellular differentiation in the inner ear sensory epithelia
    Anna Kirjavainen
    Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland
    Dev Biol 322:33-45. 2008
    ..The data point to the tight regulation of phenotypic characteristics of hair cells and supporting cells...
  50. pmc Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear
    Dan Zou
    McLaughlin Research Institute for Biomedical Sciences, Great Falls, MT 59405, USA
    Hum Mol Genet 17:3340-56. 2008
    ..These results also provide a molecular mechanism for understanding how hypomorphic levels of EYA1 cause inner-ear defects in humans...
  51. pmc Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence
    Daniel Gibbs
    Departments of Pharmacology, UCSD School of Medicine, La Jolla, California, USA
    Invest Ophthalmol Vis Sci 50:4386-93. 2009
    ..under development for use in the most common genetic variant of USH1, USH1B, which is caused by mutations in the MYO7A gene...
  52. pmc Canal cristae growth and fiber extension to the outer hair cells of the mouse ear require Prox1 activity
    Bernd Fritzsch
    Department of Biology, University of Iowa, Iowa City, Iowa, United States of America
    PLoS ONE 5:e9377. 2010
    ..The homeobox gene Prox1 is required for lens, retina, pancreas, liver, and lymphatic vasculature development and is expressed in inner ear supporting cells and neurons...
  53. pmc Neurod1 regulates survival and formation of connections in mouse ear and brain
    Israt Jahan
    Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242, USA
    Cell Tissue Res 341:95-110. 2010
    ....
  54. pmc Pax2 and Pax8 cooperate in mouse inner ear morphogenesis and innervation
    Maxime Bouchard
    Biochemistry Department, Goodman Cancer Centre, McGill University, Quebec, Canada
    BMC Dev Biol 10:89. 2010
    ..Past research has suggested various cochlear defects and some vestibular defects in Pax2 null mice but the details of the cochlear defects and the interaction with other Pax family members in ear development remain unclear...
  55. doi Phosphatase and tensin homolog deleted on chromosome 10 regulates sensory cell proliferation and differentiation of hair bundles in the mammalian cochlea
    Y Dong
    Department of Cell Physiology, Faculty of Medicine, Kagawa University, 1750 1 Ikenobe, Miki cho, Kita gun, Kagawa 761 0793, Japan
    Neuroscience 170:1304-13. 2010
    ....
  56. pmc Notch signaling specifies prosensory domains via lateral induction in the developing mammalian inner ear
    Byron H Hartman
    Department of Biological Structure, University of Washington, Seattle, 98195, USA
    Proc Natl Acad Sci U S A 107:15792-7. 2010
    ..These results support a model where activation of Notch and propagation through lateral induction promote prosensory character in specific regions of the developing otocyst...
  57. pmc Conditional deletion of Atoh1 using Pax2-Cre results in viable mice without differentiated cochlear hair cells that have lost most of the organ of Corti
    Ning Pan
    University of Iowa, Department of Biology, 143 BB, Iowa City, IA 52242, USA
    Hear Res 275:66-80. 2011
    ..However, some of the remaining organ of Corti cells express Myo7a at late postnatal stages and are innervated by remaining afferent fibers...
  58. pmc The role of sensory organs and the forebrain for the development of the craniofacial shape as revealed by Foxg1-cre-mediated microRNA loss
    Jennifer Kersigo
    Department of Biology, University of Iowa, Iowa City, Iowa 52242, USA
    Genesis 49:326-41. 2011
    ....
  59. doi Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo
    Lin Wu
    Division of Life Science, Molecular Neuroscience Center, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Science 331:757-60. 2011
    The unconventional myosin VIIa (MYO7A) is one of the five proteins that form a network of complexes involved in formation of stereocilia. Defects in these proteins cause syndromic deaf-blindness in humans [Usher syndrome I (USH1)]...
  60. doi Rbpj regulates development of prosensory cells in the mammalian inner ear
    Norio Yamamoto
    Laboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, NIDCD, NIH, Bethesda, MD 20892, USA
    Dev Biol 353:367-79. 2011
    ..These results suggest important roles for Rbpj and notch signaling in multiple aspects of inner ear development including prosensory cell maturation, cellular differentiation and survival...
  61. pmc Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice
    You Wei Peng
    National Usher Syndrome Center, Boys Town National Research Hospital, Omaha, Nebraska, USA
    Invest Ophthalmol Vis Sci 52:6421-7. 2011
    ..Mutations in the myosin VIIa gene (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B). Shaker1 mice have mutant MYO7A...
  62. pmc Conditional deletion of N-Myc disrupts neurosensory and non-sensory development of the ear
    Benjamin Kopecky
    Department of Biology, University of Iowa, Iowa City, Iowa, USA
    Dev Dyn 240:1373-90. 2011
    ..These findings are put in the context of the possible functional relationship of N-Myc with a number of other cell proliferative and fate determining genes during ear development...
  63. pmc Dynamic expression of Lgr5, a Wnt target gene, in the developing and mature mouse cochlea
    Renjie Chai
    Department of Otolaryngology Head and Neck Surgery, Stanford University, CA 94305, USA
    J Assoc Res Otolaryngol 12:455-69. 2011
    ..Their differential expression among cell populations highlights the dynamic but complex distribution of Wnt-activated cells in and around the embryonic and postnatal cochlea...
  64. pmc The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65
    Vanda S Lopes
    Jules Stein Eye Institute and Department of Neurobiology, UCLA School of Medicine, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
    Hum Mol Genet 20:2560-70. 2011
    Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B...
  65. pmc Dual embryonic origin of the mammalian otic vesicle forming the inner ear
    Laina Freyer
    Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, USA
    Development 138:5403-14. 2011
    ..This study defines a dual cellular origin of the inner ear from sensory placode ectoderm and NECs, and changes the current paradigm of inner ear neurosensory development...
  66. pmc A novel Atoh1 "self-terminating" mouse model reveals the necessity of proper Atoh1 level and duration for hair cell differentiation and viability
    Ning Pan
    Department of Biology, University of Iowa, Iowa City, Iowa, United States of America
    PLoS ONE 7:e30358. 2012
    ..The remaining cells express hair cell marker Myo7a and attract nerve fibers, but do not differentiate normal stereocilia bundles...
  67. pmc Eya1-Six1 interaction is sufficient to induce hair cell fate in the cochlea by activating Atoh1 expression in cooperation with Sox2
    Mohi Ahmed
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Dev Cell 22:377-90. 2012
    ..Our findings demonstrate that direct and cooperative interactions between the Sox2, Six1, and Eya1 proteins coordinate Atoh1 expression to specify hair cell fate...
  68. pmc Continued expression of GATA3 is necessary for cochlear neurosensory development
    Jeremy S Duncan
    Department of Biology, University of Iowa, Iowa City, Iowa, United States of America
    PLoS ONE 8:e62046. 2013
    ..We suggest that Gata3 may act in combination with Eya1, Six1, and Sox2 in cochlear prosensory gene signaling...
  69. doi Tracing Sox10-expressing cells elucidates the dynamic development of the mouse inner ear
    Takanori Wakaoka
    Department of Otolaryngology, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu City, Gifu 501 1194, Japan
    Hear Res 302:17-25. 2013
    ..Further analyzing the Sox10-IRES-Venus mice would provide important information to better understand the development of the inner ear...
  70. ncbi The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival
    Deeann Wallis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Development 130:221-32. 2003
    ..Hence, Gfi1 is expressed in the developing nervous system, is required for inner ear hair cell differentiation, and its loss causes programmed cell death...
  71. ncbi Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
    ..We show that myosin-XVa is a motor protein that, in vivo, interacts with the third PDZ domain of whirlin through its carboxy-terminal PDZ-ligand...
  72. pmc MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes
    Aziz El-Amraoui
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, F 5724 Paris cedex 15, France
    EMBO Rep 3:463-70. 2002
    Defects of the myosin VIIa motor protein cause deafness and retinal anomalies in humans and mice...
  73. ncbi Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B
    R T Libby
    Medical Research Council Institute of Hearing Research, University Park, Nottingham NG7 2RD, UK
    Invest Ophthalmol Vis Sci 42:770-8. 2001
    In humans, mutations in the gene encoding myosin VIIa can cause Usher syndrome type 1b (USH1B), a disease characterized by deafness and retinitis pigmentosa...
  74. ncbi Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells
    Jan Reiners
    Institute for Zoology, Johannes Gutenberg University, Mainz, Germany
    Invest Ophthalmol Vis Sci 44:5006-15. 2003
    ..Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ..
  75. pmc Regulation of cellular calcium in vestibular supporting cells by otopetrin 1
    Euysoo Kim
    Washington University School of Medicine, Department of Developmental Biology, 660 S Euclid Avenue, St Louis, MO 63110, USA
    J Neurophysiol 104:3439-50. 2010
    ..These data support a model in which OTOP1 acts as a sensor of the extracellular calcium concentration near supporting cells and responds to ATP in the endolymph to increase intracellular calcium levels during otoconia mineralization...
  76. pmc Role of p63 and the Notch pathway in cochlea development and sensorineural deafness
    Alessandro Terrinoni
    Biochemistry Laboratory Istituto Dermopatico Dell Immacolata, c o Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, 00133 Rome, Italy
    Proc Natl Acad Sci U S A 110:7300-5. 2013
    ....
  77. pmc Genetics of warfarin-resistance in house mice of three separate localities
    F J MacSwiney
    J Hyg (Lond) 80:69-75. 1978
    ..Questions are posed as to the adaptive significance of the phenomena, and the way in which they work, in the patchwork of warfarin baited and unbaited areas in this country...
  78. ncbi The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations
    A Shnerson
    Brain Res 285:305-15. 1983
    ..The selective degeneration of efferents to outer hair cells is viewed as being consistent with the hypothesis that there are two independent efferent systems which innervate the two types of cochlear sensory hair cells...
  79. pmc Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 135:1107-16. 1993
    ..Extension of physical maps from D7Rn6 should provide access both to the pid region and to loci mapping distal to pid that are defined by N-ethyl-N-nitrosourea-induced lethal mutations...
  80. pmc Deletion mapping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 135:1117-23. 1993
    ..Phenotypic and genetic analyses of these mutations should provide useful information on the functional composition of the corresponding segment of the human genome (perhaps human 11q13.5)...
  81. ncbi Deletion mapping of the chocolate (cht) locus within the Fes-Hbb region of mouse chromosome 7
    M D Potter
    University of Tennessee, Oak Ridge Graduate School of Biomedical Sciences
    Mamm Genome 4:46-8. 1993
  82. ncbi Origin of vestibular dysfunction in Usher syndrome type 1B
    J C Sun
    Department of Anatomy, Erasmus University Rotterdam, Rotterdam, 3000DR, The Netherlands
    Neurobiol Dis 8:69-77. 2001
    ..We conclude that the vestibular dysfunction of Usher 1B patients and shaker-1 mice is peripheral in origin...
  83. ncbi Spatiotemporal expression of otogelin in the developing and adult mouse inner ear
    A El-Amraoui
    Unité de Génétique des Déficits Sensoriel, CNRS URA 1968, Institut Pasteur, Paris, France
    Hear Res 158:151-9. 2001
    ..At this stage, otogelin is detected in the epithelial cells which do not overlap with the myosin VIIA-expressing cells, namely the precursors of the hair cells, thus arguing for an early commitment of the two cell ..
  84. pmc A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
    Chantal M Longo-Guess
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 102:7894-9. 2005
    ..Our localization of TMHS to the apical membrane of inner ear hair cells during the period of stereocilia formation suggests a function in hair bundle morphogenesis...
  85. ncbi Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    Nicolas Michalski
    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche en Santé 587, College de France, Institut Pasteur, 75724 Paris Cedex 15, France
    J Neurosci 27:6478-88. 2007
    ..In addition, the delocalization of these proteins in myosin VIIa defective mutant mice as well as the myosin VIIa tail direct interactions with vezatin, whirlin, and, we show, ..
  86. ncbi Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression
    Mario Cabraja
    Department of Physiology, Charite, Universitatsmedizin Berlin, Campus Benjamin Franklin, D 14195 Berlin, Germany
    J Comp Neurol 504:418-26. 2007
    ..Whether the decrease in Calr expression may reflect biochemical adaptations in response to input disturbances or a specific loss of large BNs is discussed...
  87. ncbi Dll3 is expressed in developing hair cells in the mammalian cochlea
    Byron H Hartman
    Department of Biological Structure, University of Washington, Seattle, Washington 98195, USA
    Dev Dyn 236:2875-83. 2007
    ..Thus Dll3 may play a role in lateral inhibition similar to that of Dll1 and Jag2...
  88. pmc Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids
    Amel Bahloul
    Département de Neuroscience, Institut Pasteur, Paris, France
    Hum Mol Genet 19:3557-65. 2010
    ..We establish that cadherin-23 directly binds to the tail of myosin VIIa. Moreover, cadherin-23, harmonin and myosin VIIa can form a ternary complex, which suggests that myosin VIIa ..
  89. doi Cooperative functions of Hes/Hey genes in auditory hair cell and supporting cell development
    Tomoko Tateya
    Institute for Virus Research, Kyoto University, Kyoto 606 8507, Japan
    Dev Biol 352:329-40. 2011
    ....
  90. doi Nectins establish a checkerboard-like cellular pattern in the auditory epithelium
    Hideru Togashi
    Division of Molecular and Cellular Biology, Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Science 333:1144-7. 2011
    ..When cells expressing either nectin-1 or -3 were cocultured, they arranged themselves into a mosaic pattern. Thus, nectin-1 and -3 promote the formation of the checkerboard-like pattern of the auditory epithelia...
  91. pmc Influence of gene duplication and X-inactivation on mouse mitochondrial malic enzyme activity and electrophoretic patterns
    E M Eicher
    Genetics 85:647-58. 1977
    ..We conclude that the expression of an autosomal locus attached to X-chromatin depends upon whether the translocation is in a balanced or unbalanced state...
  92. pmc A major gene controlling warfarin-resistance in the house mouse
    M E Wallace
    J Hyg (Lond) 76:173-81. 1976
    ..The adaptive significance of the finding is discussed, as also are reports of certain other mutants in wild populations of mice...
  93. pmc A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 87:896-900. 1990
    ..It is also yielding additional mutations useful in dissecting the functional and molecular complexity of this segment of chromosome 7...
  94. pmc Molecular mapping within the mouse albino-deletion complex
    D K Johnson
    Biology Division, Oak Ridge National Laboratory, TN
    Proc Natl Acad Sci U S A 86:8862-6. 1989
    ....
  95. ncbi Genetic deafness--progress with mouse models
    S D Brown
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, Imperial College of Science Technology and Medicine, London, UK
    Hum Mol Genet 3:1453-6. 1994
    ..Progress with positional cloning of the shaker-1 mouse mutation is described...
  96. ncbi Sequencing of the olfactory marker protein gene in normal and shaker-1 mutant mice
    K A Brown
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, Imperial College of Science, Technology and Medicine, London, UK
    Mamm Genome 5:11-4. 1994
    ..No sequence variants were detected in the coding region of any of the sh-1 mutants, ruling out Omp as the shaker-1 gene...
  97. ncbi Expression of myosin VIIA during mouse embryogenesis
    I Sahly
    Centre de Recherches Thérapeutiques en Ophtalmologie, Laboratoire d Embryologie Humaine, Faculte de Medecine Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Anat Embryol (Berl) 196:159-70. 1997
    The gene encoding myosin VIIA is responsible for the mouse shaker-1 phenotype, which consists of deafness and balance deficiency related to cochlear and vestibular neuroepithelial defects...
  98. ncbi Myosins: a diverse superfamily
    J R Sellers
    National Heart, Lung and Blood Institute, National Institutes of Health, Building 10, Room 8N202, Bethesda, MD 20892, USA
    Biochim Biophys Acta 1496:3-22. 2000
    ..This review will focus on myosins from class IV, VI, VII, VIII, X, XI, XII, XIII, XIV and XV. In addition, the function of myosin II in non-muscle cells will also be discussed...
  99. ncbi Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha8beta1
    A Littlewood Evans
    Friedrich Miescher Institute, Basel, Switzerland
    Nat Genet 24:424-8. 2000
    ..Mutations affecting matrix molecules cause inherited forms of inner ear disease and integrins may mediate some effects of matrix molecules in the ear; thus, mutations in integrin genes may lead to inner-ear diseases as well...
  100. ncbi Role of the F-box protein Skp2 in cell proliferation in the developing auditory system in mice
    Youyi Dong
    Department of Otolaryngology Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kawaharacho 54, Shogoin, Sakyo ku, 606 8507 Kyoto, Japan
    Neuroreport 14:759-61. 2003
    ..These findings suggest that Skp2 plays a crucial role in development of mammalian auditory systems...

Research Grants10

  1. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
    ..The results of this research will lead to the formulation of hypotheses about the underlying molecular events in these diseases and may evolve into recommendations for treatment paradigms in these blinding retinal degenerations. ..
  2. Mutagenesis of the Mammalian Imprinting Process(es)
    Eugene Rinchik; Fiscal Year: 2002
    ..abstract_text> ..
  3. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
    ....
  4. The cell cycle in ototoxin induced hair cell death.
    Neil Segil; Fiscal Year: 2007
    ..abstract_text> ..
  5. DISSECTING THE EAR NEUROSENSORY DEVELOPMENT.
    Bernd Fritzsch; Fiscal Year: 2010
    ..Such information is crucial to govern the use of neurotrophins for regeneration, plasticity and maintenance of adult innervation. ..
  6. Marking hair cell progenitors with BAC transgenics
    Neil Segil; Fiscal Year: 2004
    ..In the Specific Aim 3, the same purified otic epithelial sub-populations will be profiled using micro-arrays to provide initial information about gene expression networks in the developing inner ear. ..
  7. Myosin VI in Postsynaptic Function and Plasticity
    Emily Osterweil; Fiscal Year: 2004
    ..Myosin VI may be similarly critical for postsynaptic function and plasticity, deficits in which are seen in Down's syndrome, fragile X syndrome, and epilepsy. ..
  8. Afferent Innervation of the Postnatal Cochlea
    CLIFFORD HUME; Fiscal Year: 2008
    ..Finally, I will use molecular techniques to begin to dissect the signals that regulate axon guidance in the developing auditory system. ..
  9. FGF in sensory system development
    OLIVIA MARY BERMINGHAM MCDONOGH; Fiscal Year: 2010
    ..Moreover, a better understanding of the molecular pathways regulating normal development will be critical for rational strategies for hair cell replacement and regeneration in adult onset deafness. ..