Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

@article{ElAmraoui1996HumanU1,
  title={Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.},
  author={Aziz El-Amraoui and Iman Sahly and Serge Picaud and Jos{\'e} Alain Sahel and M. H. Abitbol and Christine Petit},
  journal={Human molecular genetics},
  year={1996},
  volume={5 8},
  pages={1171-8}
}
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… CONTINUE READING