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J Neurosci July 21, 2010; 30 (29): 9683-94.

The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice.

Shin JB , Longo-Guess CM , Gagnon LH , Saylor KW , Dumont RA , Spinelli KJ , Pagana JM , Wilmarth PA , David LL , Gillespie PG , Johnson KR .

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 the bundle''s longest stereocilia. FSCN2 expression increases when these stereocilia differentially elongate, suggesting that FSCN2 controls filament growth, stiffens exposed stereocilia, or both. Because ahl8 accelerates hearing loss only in the presence of mutant cadherin 23, a component of hair-cell tip links, mechanotransduction and actin crosslinking must be functionally interrelated.

PubMed ID: 20660251
PMC ID: PMC2922854
Article link: J Neurosci
Grant support: [+]
Genes referenced: abr actb actg1 actl6a ag1 fscn1 fscn2 notch1 pls1 tbx2
Antibodies: Fscn2 Ab1

Article Images: [+] show captions
Belyantseva, 2009, Pubmed [+]

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