Gene Symbol: Myo7a
Description: myosin VIIA
Alias: unconventional myosin-VIIa, myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)), myosin-VIIa
Species: rat
Products:     Myo7a

Top Publications

  1. Liu X, Ondek B, Williams D. Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat Genet. 1998;19:117-8 pubmed
  2. Smits B, Peters T, Mul J, Croes H, Fransen J, Beynon A, et al. Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. Genetics. 2005;170:1887-96 pubmed
    ..Candidate gene resequencing identified a point mutation that introduces a premature stopcodon in Myo7a. Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that ..
  3. 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
    ..Here we present evidence that a gene encoding myosin VIIA is responsible for USH1B...
  4. Gibson F, Walsh J, Mburu P, Varela A, Brown K, Antonio M, et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. 1995;374:62-4 pubmed
    ..The myosin type VII molecule encoded by sh1 is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction. ..
  5. Inoue A, Ikebe M. Characterization of the motor activity of mammalian myosin VIIA. J Biol Chem. 2003;278:5478-87 pubmed
    b>Myosin VIIA was cloned from rat kidney, and the construct (M7IQ5) containing the motor domain, IQ domain, and the coiled-coil domain as well as the full-length myosin VIIA (M7full) was expressed. The M7IQ5 contained five calmodulins...
  6. Liu X, Udovichenko I, Brown S, Steel K, Williams D. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci. 1999;19:6267-74 pubmed
    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...
  7. Gibbs D, Azarian S, Lillo C, Kitamoto J, Klomp A, Steel K, et al. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci. 2004;117:6473-83 pubmed
    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. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam K, Weil D, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005;14:347-56 pubmed
    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)...
  9. Self T, Mahony M, Fleming J, Walsh J, Brown S, Steel K. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development. 1998;125:557-66 pubmed
    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...

More Information


  1. Mburu P, Liu X, Walsh J, Saw D, Cope M, Gibson F, et al. Mutation analysis of the mouse myosin VIIA deafness gene. Genes Funct. 1997;1:191-203 pubmed
    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]...
  2. Kros C, Marcotti W, van Netten S, Self T, Libby R, Brown S, et al. Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nat Neurosci. 2002;5:41-7 pubmed
    ..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...
  3. Libby R, Steel K. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Invest Ophthalmol Vis Sci. 2001;42:770-8 pubmed
    In humans, mutations in the gene encoding myosin VIIa can cause Usher syndrome type 1b (USH1B), a disease characterized by deafness and retinitis pigmentosa...
  4. Soni L, Warren C, Bucci C, Orten D, Hasson T. The unconventional myosin-VIIa associates with lysosomes. Cell Motil Cytoskeleton. 2005;62:13-26 pubmed
    Mutations in the myosin-VIIa (MYO7a) gene cause human Usher disease, characterized by hearing impairment and progressive retinal degeneration...
  5. Gibbs D, Kitamoto J, Williams D. Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc Natl Acad Sci U S A. 2003;100:6481-6 pubmed
    Mutations in the myosin VIIa gene (MYO7A) cause Usher syndrome type 1B (USH1B), a major type of the deaf-blind disorder, Usher syndrome...
  6. Hasson T, Heintzelman M, Santos Sacchi J, Corey D, Mooseker M. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A. 1995;92:9815-9 pubmed
    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...
  7. Libby R, Lillo C, Kitamoto J, Williams D, Steel K. Myosin Va is required for normal photoreceptor synaptic activity. J Cell Sci. 2004;117:4509-15 pubmed
  8. Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan J, et al. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat. 2002;20:76-7 pubmed
    ..The most frequently mutated genes are MYO7A, which causes USH1B, and usherin, which causes USH2A...
  9. Holme R, Steel K. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res. 2002;169:13-23 pubmed
    Mutations in myosin VIIa (Myo7a) and cadherin 23 (Cdh23) cause deafness in shaker1 (sh1) and waltzer (v) mouse mutants respectively...
  10. Legendre K, Safieddine S, Küssel Andermann P, Petit C, El Amraoui A. alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells. J Cell Sci. 2008;121:3347-56 pubmed publisher
    ..We conclude that the cortical network involved in the sound-induced electromotility of OHCs contains alphaII-betaV spectrin, and not the conventional alphaII-betaII spectrin. ..
  11. Phillips K, Tong S, Goodyear R, Richardson G, Cyr J. Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice. J Neurosci. 2006;26:10777-88 pubmed
    ..Collectively, our data suggest that Myo1c and Cdh23 interact at the tips of hair-cell stereocilia and that this interaction is modulated by CaM. ..
  12. Weston M, Kelley P, Overbeck L, Wagenaar M, Orten D, Hasson T, et al. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet. 1996;59:1074-83 pubmed
    ..The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14...
  13. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23...
  14. Deol M, Green M. Cattanach's translocation as a tool for studying the action of the shaker-1 gene in the mouse. J Exp Zool. 1969;170:301-9 pubmed
  16. Prüss H, Derst C, Lommel R, Veh R. Differential distribution of individual subunits of strongly inwardly rectifying potassium channels (Kir2 family) in rat brain. Brain Res Mol Brain Res. 2005;139:63-79 pubmed
    ..4 than previously determined. In summary, the widespread presence of all four Kir2 channel subunits in the rat brain provides further evidence for their important role in central signal processing and neural transmission. ..
  17. Osterweil E, Wells D, Mooseker M. A role for myosin VI in postsynaptic structure and glutamate receptor endocytosis. J Cell Biol. 2005;168:329-38 pubmed
    ..These results suggest that Myo6 plays a role in the clathrin-mediated endocytosis of AMPARs, and that its loss leads to alterations in synaptic structure and astrogliosis. ..
  18. Deol M. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond B Biol Sci. 1956;145:206-13 pubmed
  19. Schwander M, Sczaniecka A, Grillet N, Bailey J, Avenarius M, Najmabadi H, et al. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007;27:2163-75 pubmed
  20. Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, et al. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008;135:1427-37 pubmed publisher
    ..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital ..
  21. Longo Guess C, Gagnon L, Cook S, Wu J, Zheng Q, Johnson K. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Proc Natl Acad Sci U S A. 2005;102:7894-9 pubmed
    ..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. ..
  22. Kazmierczak P, Muller U. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci. 2012;35:220-9 pubmed publisher
    ..We review here recent studies that have both identified some of these molecules and established the mechanisms by which they regulate the activity of the still-elusive mechanotransduction channel. ..
  23. Colella P, Sommella A, Marrocco E, Di Vicino U, Polishchuk E, Garcia Garrido M, et al. Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy. PLoS ONE. 2013;8:e72027 pubmed publisher
    Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa...
  24. Shnerson A, Lenoir M, Van De Water T, Pujol R. The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations. Brain Res. 1983;285:305-15 pubmed
    ..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. ..
  25. Rhodes C, Hertzano R, Fuchs H, Bell R, de Angelis M, Steel K, et al. A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm Genome. 2004;15:686-97 pubmed
    ..Protein analysis revealed reduced levels of myosin VIIa expression in inner ears of headbanger mice...
  26. Libby R, Kitamoto J, Holme R, Williams D, Steel K. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res. 2003;77:731-9 pubmed
    ..No functional interaction between cadherin 23 and myosin VIIa was detected by either microscopy or ERG.
  27. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F. ..
  28. Gillespie P, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell. 2009;139:33-44 pubmed publisher
  29. Li W, Wu J, Yang J, Sun S, Chai R, Chen Z, et al. Notch inhibition induces mitotically generated hair cells in mammalian cochleae via activating the Wnt pathway. Proc Natl Acad Sci U S A. 2015;112:166-71 pubmed publisher
  30. Zheng Q, Scarborough J, Zheng Y, Yu H, Choi D, Gillespie P. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet. 2012;21:2588-98 pubmed publisher
    ..We identified a new allele at the Myo7a locus, Myo7a(sh1-8J); genomic characterization indicated that Myo7a(sh1-8J) arose from complex deletion ..
  31. Zheng J, Shou J, Guillemot F, Kageyama R, Gao W. Hes1 is a negative regulator of inner ear hair cell differentiation. Development. 2000;127:4551-60 pubmed
    ..These results suggest that a balance between Math1 and negative regulators such as Hes1 is crucial for the production of an appropriate number of inner ear hair cells. ..
  32. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
  33. Futter C, Ramalho J, Jaissle G, Seeliger M, Seabra M. The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells. Mol Biol Cell. 2004;15:2264-75 pubmed
    ..Unlike skin melanocytes, the effects of Rab27a are mediated through myosin VIIa in the RPE, as evidenced by the similar melanosome distribution phenotype observed in shaker-1 mice, defective ..
  34. Kumar A, Babu M, Kimberling W, Venkatesh C. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A. Mol Vis. 2004;10:910-6 pubmed
    ..Exon specific intronic primers for the MYO7A gene were used to amplify DNA samples from one affected individual from the family...
  35. Grati M, Kachar B. Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci U S A. 2011;108:11476-81 pubmed publisher
    ..Both myosin VIIa (MYO7A) and myosin 1c have been implicated in mechanotransduction based on functional studies...
  36. Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch Grau M, Aghaie A, et al. Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016;212:231-44 pubmed publisher
  37. Ben Salem S, Rehm H, Willems P, Tamimi Z, Ayadi H, Ali B, et al. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. Mol Biol Rep. 2014;41:193-200 pubmed publisher
    Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and nonsyndromic deafness (DFNB2, DFNA11)...
  38. Selvakumar D, Drescher M, Drescher D. Cyclic nucleotide-gated channel ?-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction. J Biol Chem. 2013;288:7215-29 pubmed publisher
    ..b>Myosin VIIa, required for adaptation of hair cell mechanotransduction (MET) channel(s), competed with CDH23 +68, with ..
  39. Senften M, Schwander M, Kazmierczak P, Lillo C, Shin J, Hasson T, et al. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006;26:2060-71 pubmed
    ..gene products that have been associated with deafness and hair bundle defects, protocadherin 15 (PCDH15) and myosin VIIa (MYO7A), into a common pathway...
  40. Sun J, Van Alphen A, Wagenaar M, Huygen P, Hoogenraad C, Hasson T, et al. Origin of vestibular dysfunction in Usher syndrome type 1B. Neurobiol Dis. 2001;8:69-77 pubmed
    ..We conclude that the vestibular dysfunction of Usher 1B patients and shaker-1 mice is peripheral in origin. ..
  41. Heissler S, Manstein D. Functional characterization of the human myosin-7a motor domain. Cell Mol Life Sci. 2012;69:299-311 pubmed publisher
    Myosin-7a participates in auditory and visual processes. Defects in MYO7A, the gene encoding the myosin-7a heavy chain, are causative for Usher syndrome 1B, the most frequent cause of deaf-blindness in humans...
  42. Pan N, Jahan I, Kersigo J, Kopecky B, Santi P, Johnson S, et al. 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. Hear Res. 2011;275:66-80 pubmed publisher
    ..However, some of the remaining organ of Corti cells express Myo7a at late postnatal stages and are innervated by remaining afferent fibers...
  43. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011;32:1450-9 pubmed publisher
    ..These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A. Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in ..
  44. 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
    ..The gene encoding myosin VIIA is responsible for USH1B...
  45. 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
    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...
  46. Michalski N, Michel V, Bahloul A, Lefevre G, Barral J, Yagi H, et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007;27:6478-88 pubmed
    ..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, ..
  47. El Amraoui A, Schonn J, Küssel Andermann P, Blanchard S, Desnos C, Henry J, et al. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep. 2002;3:463-70 pubmed
    Defects of the myosin VIIa motor protein cause deafness and retinal anomalies in humans and mice...
  48. Velichkova M, Guttman J, Warren C, Eng L, Kline K, Vogl A, et al. A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions. Cell Motil Cytoskeleton. 2002;51:147-64 pubmed
    ..Keap1 and myosin-VIIa overlapped in expression in the inner hair cells of the cochlea, suggesting that Keap1 may be a part of a family of actin-binding proteins that could be important for myosin-VIIa function in testis and inner ear. ..
  49. Bolz H, Bolz S, Schade G, Kothe C, Mohrmann G, Hess M, et al. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat. 2004;24:274-5 pubmed
    Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We identified a novel heterozygous missense mutation (c.2557C>T; p...