The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice

@article{Shin2010TheRV,
  title={The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice},
  author={Jung-Bum Shin and Chantal M. Longo-Guess and L. Gagnon and Katherine W Saylor and R. Dumont and K. Spinelli and James M. Pagana and P. Wilmarth and L. David and P. Gillespie and Kenneth R Johnson},
  journal={The Journal of Neuroscience},
  year={2010},
  volume={30},
  pages={9683 - 9694}
}
The quantitative trait locus ahl8 is a key contributor to the early-onset, age-related hearing loss of DBA/2J mice. A nonsynonymous nucleotide substitution in the mouse fascin-2 gene (Fscn2) is responsible for this phenotype, confirmed by wild-type BAC transgene rescue of hearing loss in DBA/2J mice. In chickens and mice, FSCN2 protein is abundant in hair-cell stereocilia, the actin-rich structures comprising the mechanically sensitive hair bundle, and is concentrated toward stereocilia tips of… Expand
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The stable actin core of mechanosensory stereocilia features continuous turnover of actin cross-linkers
R1 motif is the major actin-binding domain of TRIOBP-4.
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