Gene Symbol: Ush1g
Description: USH1 protein network component sans
Alias: Usher syndrome type-1G protein, Usher syndrome 1G (autosomal recessive), Usher syndrome 1G homolog
Species: rat
Products:     Ush1g

Top Publications

  1. Kitamura K, Yagi M, Yoshikawa Y, Ochidubo F, Kato M. Vestibular pathology in a new-mutant mouse. Acta Otolaryngol Suppl. 1991;481:121-4 pubmed
    ..In contrast, the cristae ampullaris remained well preserved until the age of 18 months. The phenotype of the abnormal gene in these mutant mice correlates to the morphological abnormalities seen in the vestibule. ..
  2. 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. ..
  3. Weil D, El Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003;12:463-71 pubmed
    ..We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2...
  4. 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. ..
  5. Yan J, Pan L, Chen X, Wu L, Zhang M. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A. 2010;107:4040-5 pubmed publisher
    ..Harmonin/USH1C and Sans/USH1G are two of the USH1 proteins that interact with each other...
  6. Kitamura K, Yoshikawa Y, Ochikubo F. An ultrastructural study on vestibular sensory cells in a new-mutant mouse. Acta Otolaryngol. 1991;111:1013-20 pubmed
    ..Because no morphological abnormality was observed in the central nervous system, the abnormal behavior in these mice was primarily correlated with morphological abnormalities of the vestibule. ..
  7. Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet. 2003;12:453-61 pubmed
    ..The existence of major motifs, ankyrin repeats and a SAM domain suggests that Sans may have an important role in the development and maintenance of the stereocilia bundles through protein-protein interaction. ..
  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
    ..We propose that via its binding to myosin VIIa and/or harmonin, sans controls the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins en route to the stereocilia. ..
  9. Maerker T, Van Wijk E, Overlack N, Kersten F, McGee J, Goldmann T, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17:71-86 pubmed
    ..Here, we analyzed a protein network organized in the absence of harmonin by the scaffold proteins SANS (USH1G) and whirlin (USH2D)...

More Information


  1. 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
  2. Kitamura K, Kakoi H, Yoshikawa Y, Ochikubo F. Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol. 1992;112:622-7 pubmed
    ..Therefore, future studies can provide additional information on the cytodifferentiation of the stereocilia as a function of the gene on chromosome 11. ..
  3. 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. ..