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• W2080005801 endingPage "e36074" @default.
• W2080005801 startingPage "e36074" @default.
• W2080005801 abstract "Stereocilia, the modified microvilli projecting from the apical surfaces of the sensory hair cells of the inner ear, are essential to the mechanoelectrical transduction process underlying hearing and balance. The actin-filled stereocilia on each hair cell are tethered together by fibrous links to form a highly patterned hair bundle. Although many structural components of hair bundles have been identified, little is known about the signaling mechanisms that regulate their development, morphology, and maintenance. Here, we describe two naturally occurring, allelic mutations that result in hearing and balance deficits in mice, named roundabout (rda) and roundabout-2J (rda2J). Positional cloning identified both as mutations of the mouse ELMO domain containing 1 gene (Elmod1), a poorly characterized gene with no previously reported mutant phenotypes. The rda mutation is a 138 kb deletion that includes exons 1–5 of Elmod1, and rda2J is an intragenic duplication of exons 3–8 of Elmod1. The deafness associated with these mutations is caused by cochlear hair cell dysfunction, as indicated by conspicuous elongations and fusions of inner hair cell stereocilia and progressive degeneration of outer hair cell stereocilia. Mammalian ELMO-family proteins are known to be involved in complexes that activate small GTPases to regulate the actin cytoskeleton during phagocytosis and cell migration. ELMOD1 and ELMOD2 recently were shown to function as GTPase-activating proteins (GAPs) for the Arf family of small G proteins. Our finding connecting ELMOD1 deficiencies with stereocilia dysmorphologies thus establishes a link between the Ras superfamily of small regulatory GTPases and the actin cytoskeleton dynamics of hair cell stereocilia." @default.
• W2080005801 created "2016-06-24" @default.
• W2080005801 creator A5028082234 @default.
• W2080005801 creator A5031145902 @default.
• W2080005801 creator A5068192594 @default.
• W2080005801 date "2012-04-27" @default.
• W2080005801 modified "2023-09-27" @default.
• W2080005801 title "Mutations of the Mouse ELMO Domain Containing 1 Gene (Elmod1) Link Small GTPase Signaling to Actin Cytoskeleton Dynamics in Hair Cell Stereocilia" @default.
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• W2080005801 doi "https://doi.org/10.1371/journal.pone.0036074" @default.
• W2080005801 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3338648" @default.
• W2080005801 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22558334" @default.
• W2080005801 hasPublicationYear "2012" @default.
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