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Volumn 24, Issue 24, 2015, Pages 7017-7030

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients

Author keywords

[No Author keywords available]

Indexed keywords

BETA TUBULIN; CALRETININ; ONCOMODULIN; PROTEIN; UNCLASSIFIED DRUG; WHIRLIN PROTEIN; DFNB31 PROTEIN, HUMAN; ISOPROTEIN; MEMBRANE PROTEIN; WHRN PROTEIN, MOUSE;

EID: 84959236550     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv403     Document Type: Article
Times cited : (17)

References (49)
  • 1
    • 79960049175 scopus 로고    scopus 로고
    • A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family
    • Audo, I., Bujakowska, K., Mohand-Said, S., Tronche, S., Lancelot, M.E., Antonio, A., Germain, A., Lonjou, C., Carpentier, W., Sahel, J.A. et al. (2011) A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol. Vis., 17, 1598-1606.
    • (2011) Mol. Vis. , vol.17 , pp. 1598-1606
    • Audo, I.1    Bujakowska, K.2    Mohand-Said, S.3    Tronche, S.4    Lancelot, M.E.5    Antonio, A.6    Germain, A.7    Lonjou, C.8    Carpentier, W.9    Sahel, J.A.10
  • 3
    • 33947148611 scopus 로고    scopus 로고
    • A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    • Ebermann, I., Scholl, H.P., Charbel Issa, P., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J.M., Aller, E., Mitter, D. and Bolz, H. (2007) A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum. Genet., 121, 203-211.
    • (2007) Hum. Genet. , vol.121 , pp. 203-211
    • Ebermann, I.1    Scholl, H.P.2    Charbel Issa, P.3    Becirovic, E.4    Lamprecht, J.5    Jurklies, B.6    Millan, J.M.7    Aller, E.8    Mitter, D.9    Bolz, H.10
  • 4
    • 0043168114 scopus 로고    scopus 로고
    • Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    • Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S. et al. (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat. Genet., 34, 421-428.
    • (2003) Nat. Genet. , vol.34 , pp. 421-428
    • Mburu, P.1    Mustapha, M.2    Varela, A.3    Weil, D.4    El-Amraoui, A.5    Holme, R.H.6    Rump, A.7    Hardisty, R.E.8    Blanchard, S.9    Coimbra, R.S.10
  • 5
    • 33144483509 scopus 로고    scopus 로고
    • Identification of a novel frameshift mutation in the DFNB31/ WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss
    • Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B.A., Weil, D., Idriss, N., Drira, M., Masmoudi, S. and Ayadi, H. (2005) Identification of a novel frameshift mutation in the DFNB31/ WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum. Mutat., 25, 503-507.
    • (2005) Hum. Mutat. , vol.25 , pp. 503-507
    • Tlili, A.1    Charfedine, I.2    Lahmar, I.3    Benzina, Z.4    Mohamed, B.A.5    Weil, D.6    Idriss, N.7    Drira, M.8    Masmoudi, S.9    Ayadi, H.10
  • 7
    • 77953213409 scopus 로고    scopus 로고
    • Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
    • Yang, J., Liu, X., Zhao, Y., Adamian, M., Pawlyk, B., Sun, X., McMillan, D.R., Liberman, M.C. and Li, T. (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet., 6, e1000955.
    • (2010) PLoS Genet. , vol.6 , pp. e1000955
    • Yang, J.1    Liu, X.2    Zhao, Y.3    Adamian, M.4    Pawlyk, B.5    Sun, X.6    McMillan, D.R.7    Liberman, M.C.8    Li, T.9
  • 8
    • 84860593661 scopus 로고    scopus 로고
    • RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms
    • Wright, R.N., Hong, D.H. and Perkins, B. (2012) RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest. Ophthalmol. Vis. Sci., 53, 1519-1529.
    • (2012) Invest. Ophthalmol. Vis. Sci. , vol.53 , pp. 1519-1529
    • Wright, R.N.1    Hong, D.H.2    Perkins, B.3
  • 9
    • 13544276523 scopus 로고    scopus 로고
    • Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
    • Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S. and Brown, S.D. (2005) Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum. Mol. Genet., 14, 391-400.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 391-400
    • Kikkawa, Y.1    Mburu, P.2    Morse, S.3    Kominami, R.4    Townsend, S.5    Brown, S.D.6
  • 10
    • 84949292879 scopus 로고    scopus 로고
    • Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31
    • Mathur, P., Zou, J., Zheng, T., Almishaal, A., Wang, Y., Chen, Q., Wang, L., Vashist, D., Brown, S., Park, A. et al. (2015) Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. Hum. Mol. Genet., 24, 6213-6228.
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 6213-6228
    • Mathur, P.1    Zou, J.2    Zheng, T.3    Almishaal, A.4    Wang, Y.5    Chen, Q.6    Wang, L.7    Vashist, D.8    Brown, S.9    Park, A.10
  • 11
    • 0037068004 scopus 로고    scopus 로고
    • Elongation of hair cell stereocilia is defective in the mouse mutant whirler
    • Holme, R.H., Kiernan, B.W., Brown, S.D. and Steel, K.P. (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J. Comp. Neurol., 450, 94-102.
    • (2002) J. Comp. Neurol. , vol.450 , pp. 94-102
    • Holme, R.H.1    Kiernan, B.W.2    Brown, S.D.3    Steel, K.P.4
  • 12
    • 84919788101 scopus 로고    scopus 로고
    • Whirlin and PDZ domain containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2
    • Chen, Q., Zou, J., Shen, Z., Zhang, W. and Yang, J. (2014) Whirlin and PDZ domain containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J. Biol. Chem., 289, 36070-36088.
    • (2014) J. Biol. Chem. , vol.289 , pp. 36070-36088
    • Chen, Q.1    Zou, J.2    Shen, Z.3    Zhang, W.4    Yang, J.5
  • 14
    • 16844368993 scopus 로고    scopus 로고
    • Development and properties of stereociliary link types in hair cells of the mouse cochlea
    • Goodyear, R.J., Marcotti, W., Kros, C.J. and Richardson, G.P. (2005) Development and properties of stereociliary link types in hair cells of the mouse cochlea. J. Comp. Neurol., 485, 75-85.
    • (2005) J. Comp. Neurol. , vol.485 , pp. 75-85
    • Goodyear, R.J.1    Marcotti, W.2    Kros, C.J.3    Richardson, G.P.4
  • 15
    • 84867270247 scopus 로고    scopus 로고
    • Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
    • Grati, M., Shin, J.B., Weston, M.D., Green, J., Bhat, M.A., Gillespie, P.G. and Kachar, B. (2012) Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J. Neurosci., 32, 14288-14293.
    • (2012) J. Neurosci. , vol.32 , pp. 14288-14293
    • Grati, M.1    Shin, J.B.2    Weston, M.D.3    Green, J.4    Bhat, M.A.5    Gillespie, P.G.6    Kachar, B.7
  • 16
    • 84897522568 scopus 로고    scopus 로고
    • Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice
    • Zou, J., Zheng, T., Ren, C., Askew, C., Liu, X.P., Pan, B., Holt, J.R., Wang, Y. and Yang, J. (2014) Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum. Mol. Genet., 23, 2374-2390.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 2374-2390
    • Zou, J.1    Zheng, T.2    Ren, C.3    Askew, C.4    Liu, X.P.5    Pan, B.6    Holt, J.R.7    Wang, Y.8    Yang, J.9
  • 19
    • 0028363436 scopus 로고
    • Linkage analysis of the whirler deafness gene on mouse chromosome 4
    • Fleming, J., Rogers, M.J., Brown, S.D. and Steel, K.P. (1994) Linkage analysis of the whirler deafness gene on mouse chromosome 4. Genomics, 21, 42-48.
    • (1994) Genomics , vol.21 , pp. 42-48
    • Fleming, J.1    Rogers, M.J.2    Brown, S.D.3    Steel, K.P.4
  • 20
    • 77955683363 scopus 로고    scopus 로고
    • Oncomodulin identifies different hair cell types in the mammalian inner ear
    • Simmons, D.D., Tong, B., Schrader, A.D. and Hornak, A.J. (2010) Oncomodulin identifies different hair cell types in the mammalian inner ear. J. Comp. Neurol., 518, 3785-3802.
    • (2010) J. Comp. Neurol. , vol.518 , pp. 3785-3802
    • Simmons, D.D.1    Tong, B.2    Schrader, A.D.3    Hornak, A.J.4
  • 21
    • 16644368134 scopus 로고    scopus 로고
    • Comparative morphology of rodent vestibular periphery I. Saccular and utricular maculae.
    • Desai, S.S., Zeh, C. and Lysakowski, A. (2005) Comparative morphology of rodent vestibular periphery. I. Saccular and utricular maculae. J. Neurophysiol., 93, 251-266.
    • (2005) J. Neurophysiol. , vol.93 , pp. 251-266
    • Desai, S.S.1    Zeh, C.2    Lysakowski, A.3
  • 22
    • 39149139311 scopus 로고    scopus 로고
    • Architecture of the mouse utricle:macular organization and hair bundle heights
    • Li, A., Xue, J. and Peterson, E.H. (2008) Architecture of the mouse utricle:macular organization and hair bundle heights. J. Neurophysiol., 99, 718-733.
    • (2008) J. Neurophysiol. , vol.99 , pp. 718-733
    • Li, A.1    Xue, J.2    Peterson, E.H.3
  • 23
    • 84904561500 scopus 로고    scopus 로고
    • Large basolateral processes on type II hair cells comprise a novel processing unit in mammalian vestibular organs
    • Pujol, R., Pickett, S.B., Nguyen, T.B. and Stone, J.S. (2014) Large basolateral processes on type II hair cells comprise a novel processing unit in mammalian vestibular organs. J. Comp. Neurol., 522, 3141-3159.
    • (2014) J. Comp. Neurol. , vol.522 , pp. 3141-3159
    • Pujol, R.1    Pickett, S.B.2    Nguyen, T.B.3    Stone, J.S.4
  • 24
    • 34250366660 scopus 로고    scopus 로고
    • The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development
    • Mogensen, M.M., Rzadzinska, A. and Steel, K.P. (2007) The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil. Cytoskeleton, 64, 496-508.
    • (2007) Cell Motil. Cytoskeleton , vol.64 , pp. 496-508
    • Mogensen, M.M.1    Rzadzinska, A.2    Steel, K.P.3
  • 25
    • 84862972357 scopus 로고    scopus 로고
    • Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
    • Wang, L., Zou, J., Shen, Z., Song, E. and Yang, J. (2012) Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. Hum. Mol. Genet., 21, 692-710.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 692-710
    • Wang, L.1    Zou, J.2    Shen, Z.3    Song, E.4    Yang, J.5
  • 26
    • 0018833650 scopus 로고
    • Vestibular hair cell pathology in the Shaker-2 mouse
    • Anniko, M., Sobin, A. andWersall, J. (1980) Vestibular hair cell pathology in the Shaker-2 mouse. Arch. Otorhinolaryngol., 226, 45-50.
    • (1980) Arch. Otorhinolaryngol. , vol.226 , pp. 45-50
    • Anniko, M.1    Sobin, A.2    Wersall, J.3
  • 31
    • 84857342097 scopus 로고    scopus 로고
    • Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ
    • Goodyear, R.J., Jones, S.M., Sharifi, L., Forge, A. and Richardson, G.P. (2012) Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ. J. Neurosci., 32, 2762-2772.
    • (2012) J. Neurosci. , vol.32 , pp. 2762-2772
    • Goodyear, R.J.1    Jones, S.M.2    Sharifi, L.3    Forge, A.4    Richardson, G.P.5
  • 32
    • 75149147622 scopus 로고    scopus 로고
    • A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment
    • Hardisty-Hughes, R.E., Parker, A. and Brown, S.D. (2010) A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment. Nat. Protoc., 5, 177-190.
    • (2010) Nat. Protoc. , vol.5 , pp. 177-190
    • Hardisty-Hughes, R.E.1    Parker, A.2    Brown, S.D.3
  • 33
    • 84904460186 scopus 로고    scopus 로고
    • Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains
    • Jones, S.M. and Jones, T.A. (2014) Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains. J. Am. Acad. Audiol., 25, 289-301.
    • (2014) J. Am. Acad. Audiol. , vol.25 , pp. 289-301
    • Jones, S.M.1    Jones, T.A.2
  • 34
    • 0037382349 scopus 로고    scopus 로고
    • CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase
    • Yap, C.C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T. and Yano, R. (2003) CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. J. Neurochem., 85, 123-134.
    • (2003) J. Neurochem. , vol.85 , pp. 123-134
    • Yap, C.C.1    Liang, F.2    Yamazaki, Y.3    Muto, Y.4    Kishida, H.5    Hayashida, T.6    Hashikawa, T.7    Yano, R.8
  • 35
    • 84883522409 scopus 로고    scopus 로고
    • Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons
    • Green, J.A., Yang, J., Grati, M., Kachar, B. and Bhat, M.A. (2013) Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons. BMC Neurosci., 14, 96.
    • (2013) BMC Neurosci. , vol.14 , pp. 96
    • Green, J.A.1    Yang, J.2    Grati, M.3    Kachar, B.4    Bhat, M.A.5
  • 37
    • 0001445850 scopus 로고
    • Hereditary absence of otoliths in the house mouse
    • Lyon, M.F. (1951) Hereditary absence of otoliths in the house mouse. J. Physiol., 114, 410-418.
    • (1951) J. Physiol. , vol.114 , pp. 410-418
    • Lyon, M.F.1
  • 39
    • 0037386836 scopus 로고    scopus 로고
    • Non-syndromic vestibular disorder with otoconial agenesis in tilted/ mergulhador mice caused by mutations in otopetrin 1
    • Hurle, B., Ignatova, E., Massironi, S.M., Mashimo, T., Rios, X., Thalmann, I., Thalmann, R. and Ornitz, D.M. (2003) Non-syndromic vestibular disorder with otoconial agenesis in tilted/ mergulhador mice caused by mutations in otopetrin 1. Hum. Mol. Genet., 12, 777-789.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 777-789
    • Hurle, B.1    Ignatova, E.2    Massironi, S.M.3    Mashimo, T.4    Rios, X.5    Thalmann, I.6    Thalmann, R.7    Ornitz, D.M.8
  • 40
    • 70449365616 scopus 로고    scopus 로고
    • Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations
    • Jen, J.C. (2009) Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations. Semin. Neurol., 29, 528-533.
    • (2009) Semin. Neurol. , vol.29 , pp. 528-533
    • Jen, J.C.1
  • 42
    • 41949116366 scopus 로고    scopus 로고
    • Otoconin-90 deletion leads to imbalance but normal hearing: a comparison with other otoconia mutants
    • Zhao, X., Jones, S.M., Yamoah, E.N. and Lundberg, Y.W. (2008) Otoconin-90 deletion leads to imbalance but normal hearing: a comparison with other otoconia mutants. Neuroscience, 153, 289-299.
    • (2008) Neuroscience , vol.153 , pp. 289-299
    • Zhao, X.1    Jones, S.M.2    Yamoah, E.N.3    Lundberg, Y.W.4
  • 43
    • 84919934365 scopus 로고    scopus 로고
    • Usher syndrome: hearing loss, retinal degeneration and associated abnormalities
    • Mathur, P. and Yang, J. (2015) Usher syndrome: hearing loss, retinal degeneration and associated abnormalities. Biochim. Biophys. Acta, 1852, 406-420.
    • (2015) Biochim. Biophys. Acta , vol.1852 , pp. 406-420
    • Mathur, P.1    Yang, J.2
  • 46
    • 0032822530 scopus 로고    scopus 로고
    • Short latency compound action potentials from mammalian gravity receptor organs
    • Jones, T.A. and Jones, S.M. (1999) Short latency compound action potentials from mammalian gravity receptor organs. Hear. Res., 136, 75-85.
    • (1999) Hear. Res. , vol.136 , pp. 75-85
    • Jones, T.A.1    Jones, S.M.2
  • 47
    • 0031749827 scopus 로고    scopus 로고
    • Central and peripheral components of short latency vestibular responses in the chicken
    • Nazareth, A.M. and Jones, T.A. (1998) Central and peripheral components of short latency vestibular responses in the chicken. J. Vestib. Res., 8, 233-252.
    • (1998) J. Vestib. Res. , vol.8 , pp. 233-252
    • Nazareth, A.M.1    Jones, T.A.2
  • 48
    • 1942517933 scopus 로고    scopus 로고
    • Gravity receptor function in mice with graded otoconial deficiencies
    • Jones, S.M., Erway, L.C., Johnson, K.R., Yu, H. and Jones, T.A. (2004) Gravity receptor function in mice with graded otoconial deficiencies. Hear. Res., 191, 34-40.
    • (2004) Hear. Res. , vol.191 , pp. 34-40
    • Jones, S.M.1    Erway, L.C.2    Johnson, K.R.3    Yu, H.4    Jones, T.A.5
  • 49
    • 79958136887 scopus 로고    scopus 로고
    • Gravity receptor aging in the CBA/CaJ strain: a comparison to auditory aging
    • Mock, B., Jones, T.A. and Jones, S.M. (2011) Gravity receptor aging in the CBA/CaJ strain: a comparison to auditory aging. J. Assoc. Res. Otolaryngol., 12, 173-183.
    • (2011) J. Assoc. Res. Otolaryngol. , vol.12 , pp. 173-183
    • Mock, B.1    Jones, T.A.2    Jones, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.