Human Molecular Genetics, Vol 5, 1171-1178, Copyright © 1996 by Oxford University Press
A el-Amraoui, I Sahly, S Picaud, J Sahel, M Abitbol and C Petit
Usher syndrome type 1 (USH1) associates severe congenital deafness,
vestibular dysfunction and progressive retinitis pigmentosa leading to
blindness. The gene encoding myosin VIIA is responsible for USH1B.
Mutations in the murine orthologous gene lead to the shaker-1 phenotype,
which manifests cochlear and vestibular dysfunction, without any retinal
defect. To address this phenotypic discrepancy, the expression of myosin
VIIA in retinal cells was analyzed in human and mouse during embryonic
development and adult life. In the human embryo, myosin VIIA was present
first in the pigment epithelium cells, and later in these cells as well as
in the photoreceptor cells. In the adult human retina, myosin VIIA was
present in both cell types. In contrast, in mouse, only pigment epithelium
cells expressed the protein throughout development and adult life. Myosin
VIIA was also found to be absent in the photoreceptor cells of other
rodents (rat and guinea- pig), whereas these cells expressed the protein in
amphibians, avians and primates. These observations suggest that retinitis
pigmentosa of USH1B results from a primary rod and cone defect. The
USH1B/shaker-1 paradigm illustrates a species-specific cell pattern of gene
expression as a possible cause for the discrepancy between phenotypes
involving defective orthologous genes in man and mouse. Interestingly, in
the photoreceptor cells, myosin VIIA is mainly localized in the inner and
base of outer segments as well as in the synaptic ending region where it is
co-localized with the synaptic vesicles. 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.
ARTICLES
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
Unite de Genetique Moleculaire Humaine, Centre National de la Recherche Scientifique Unite de Recherche Associee 1968, Institut Pasteur, Paris, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. Legendre, S. Safieddine, P. Kussel-Andermann, C. Petit, and A. El-Amraoui {alpha}II-{beta}V spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells J. Cell Sci., October 15, 2008; 121(20): 3347 - 3356. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Lefevre, V. Michel, D. Weil, L. Lepelletier, E. Bizard, U. Wolfrum, J.-P. Hardelin, and C. Petit A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth Development, April 15, 2008; 135(8): 1427 - 1437. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Yang, M. Kovacs, T. Sakamoto, F. Zhang, D. P. Kiehart, and J. R. Sellers Dimerized Drosophila myosin VIIa: A processive motor PNAS, April 11, 2006; 103(15): 5746 - 5751. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Adato, G. Lefevre, B. Delprat, V. Michel, N. Michalski, S. Chardenoux, D. Weil, A. El-Amraoui, and C. Petit Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells Hum. Mol. Genet., December 15, 2005; 14(24): 3921 - 3932. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. El-Amraoui and C. Petit Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells J. Cell Sci., October 15, 2005; 118(20): 4593 - 4603. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Etournay, A. El-Amraoui, A. Bahloul, S. Blanchard, I. Roux, G. Pezeron, N. Michalski, L. Daviet, J.-P. Hardelin, P. Legrain, et al. PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa J. Cell Sci., July 1, 2005; 118(13): 2891 - 2899. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Adato, V. Michel, Y. Kikkawa, J. Reiners, K. N. Alagramam, D. Weil, H. Yonekawa, U. Wolfrum, A. El-Amraoui, and C. Petit Interactions in the network of Usher syndrome type 1 proteins Hum. Mol. Genet., February 1, 2005; 14(3): 347 - 356. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Gibbs, S. M. Azarian, C. Lillo, J. Kitamoto, A. E. Klomp, K. P. Steel, R. T. Libby, and D. S. Williams Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes J. Cell Sci., December 15, 2004; 117(26): 6473 - 6483. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Reiners, B. Reidel, A. El-Amraoui, B. Boeda, I. Huber, C. Petit, and U. Wolfrum Differential Distribution of Harmonin Isoforms and Their Possible Role in Usher-1 Protein Complexes in Mammalian Photoreceptor Cells Invest. Ophthalmol. Vis. Sci., November 1, 2003; 44(11): 5006 - 5015. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Ball, D. Bardenstein, and K. N. Alagramam Assessment of Retinal Structure and Function in Ames Waltzer Mice Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 3986 - 3992. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. K. Mehalow, S. Kameya, R. S. Smith, N. L. Hawes, J. M. Denegre, J. A. Young, L. Bechtold, N. B. Haider, U. Tepass, J. R. Heckenlively, et al. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina Hum. Mol. Genet., September 1, 2003; 12(17): 2179 - 2189. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. A. Mavlyutov, H. Zhao, and P. A. Ferreira Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species Hum. Mol. Genet., August 1, 2002; 11(16): 1899 - 1907. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Zwaenepoel, M. Mustapha, M. Leibovici, E. Verpy, R. Goodyear, X. Z. Liu, S. Nouaille, W. E. Nance, M. Kanaan, K. B. Avraham, et al. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 PNAS, April 30, 2002; 99(9): 6240 - 6245. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Liu, J. Zhou, S. P. Daiger, D. B. Farber, J. R. Heckenlively, J. E. Smith, L. S. Sullivan, J. Zuo, A. H. Milam, and E. A. Pierce Identification and Subcellular Localization of the RP1 Protein in Human and Mouse Photoreceptors Invest. Ophthalmol. Vis. Sci., January 1, 2002; 43(1): 22 - 32. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Boeda, D. Weil, and C. Petit A specific promoter of the sensory cells of the inner ear defined by transgenesis Hum. Mol. Genet., July 1, 2001; 10(15): 1581 - 1589. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. T. Libby and K. P. Steel Electroretinographic Anomalies in Mice with Mutations in Myo7a, the Gene Involved in Human Usher Syndrome Type 1B Invest. Ophthalmol. Vis. Sci., March 1, 2001; 42(3): 770 - 778. [Abstract] [Full Text]
|
|
|
|
 |
|
 V. M. Olkkonen and E. Ikonen Genetic Defects of Intracellular-Membrane Transport N. Engl. J. Med., October 12, 2000; 343(15): 1095 - 1104. [Full Text] [PDF]
|
|
|
|
 |
|
 X. Liu, I. P. Udovichenko, S. D.M. Brown, K. P. Steel, and D. S. Williams Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium J. Neurosci., August 1, 1999; 19(15): 6267 - 6274. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Goodyear and G. Richardson The Ankle-Link Antigen: an Epitope Sensitive to Calcium Chelation Associated with the Hair-Cell Surface and the Calycal Processes of Photoreceptors J. Neurosci., May 15, 1999; 19(10): 3761 - 3772. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. D. Eudy, M. D. Weston, S. Yao, D. M. Hoover, H. L. Rehm, M. Ma-Edmonds, D. Yan, I. Ahmad, J. J. Cheng, C. Ayuso, et al. Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa Science, June 12, 1998; 280(5370): 1753 - 1757. [Abstract] [Full Text]
|
|
|
|
|
|
V. Mermall, P. L. Post, and M. S. Mooseker Unconventional Myosins in Cell Movement, Membrane Traffic, and Signal Transduction Science, January 23, 1998; 279(5350): 527 - 533. [Abstract] [Full Text]
|
|
|
|
|
|
M. Cohen-Salmon, A. El-Amraoui, M. Leibovici, and C. Petit Otogelin: A glycoprotein specific to the acellular membranes of the inner ear PNAS, December 23, 1997; 94(26): 14450 - 14455. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. P. Richardson, A. Forge, C. J. Kros, J. Fleming, S. D. M. Brown, and K. P. Steel Myosin VIIA Is Required for Aminoglycoside Accumulation in Cochlear Hair Cells J. Neurosci., December 15, 1997; 17(24): 9506 - 9519. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P.G. Gillespie, T. Hasson, J.A. Garcia, and D.P. Corey Multiple Myosin Isozymes and Hair-cell Function Cold Spring Harb Symp Quant Biol, January 1, 1996; 61(0): 309 - 318. [Abstract] [PDF]
|
|
|
|
 |
|
 P. Kussel-Andermann, A. El-Amraoui, S. Safieddine, J.-P. Hardelin, S. Nouaille, J. Camonis, and C. Petit Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein J. Biol. Chem., September 15, 2000; 275(38): 29654 - 29659. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Zwaenepoel, M. Mustapha, M. Leibovici, E. Verpy, R. Goodyear, X. Z. Liu, S. Nouaille, W. E. Nance, M. Kanaan, K. B. Avraham, et al. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 PNAS, April 30, 2002; 99(9): 6240 - 6245. [Abstract] [Full Text] [PDF]
|
|