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• W2024597974 abstract "Mouse deafness mutations provide valuable models of human hearing disorders and entry points into molecular pathways important to the hearing process. A newly discovered mouse mutation named hurry-scurry ( hscy ) causes deafness and vestibular dysfunction. Scanning electron microscopy of cochleae from 8-day-old mutants revealed disorganized hair bundles, and by 50 days of age, many hair cells are missing. To positionally clone hscy , 1,160 F 2 mice were produced from an intercross of (C57BL/6- hscy × CAST/EiJ) F 1 hybrids, and the mutation was localized to a 182-kb region of chromosome 17. A missense mutation causing a critical cysteine to phenylalanine codon change was discovered in a previously undescribed gene within this candidate interval. The gene is predicted to encode an integral membrane protein with four transmembrane helices. A synthetic peptide designed from the predicted protein was used to produce specific polyclonal antibodies, and strong immunoreactivity was observed on hair bundles of both inner and outer hair cells in cochleae of newborn +/+ controls and +/ hscy heterozygotes but was absent in hscy / hscy mutants. Accordingly, the gene was given the name “tetraspan membrane protein of hair cell stereocilia,” symbol Tmhs . Two related proteins (>60% amino acid identity) are encoded by genes on mouse chromosomes 5 and 6 and, together with the Tmhs -encoded protein (TMHS), comprise a distinct tetraspan subfamily. Our localization of TMHS to the apical membrane of inner ear hair cells during the period of stereocilia formation suggests a function in hair bundle morphogenesis." @default.
• W2024597974 created "2016-06-24" @default.
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• W2024597974 date "2005-05-19" @default.
• W2024597974 modified "2023-10-03" @default.
• W2024597974 title "A missense mutation in the previously undescribed gene <i>Tmhs</i> underlies deafness in hurry-scurry ( <i>hscy</i> ) mice" @default.
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• W2024597974 doi "https://doi.org/10.1073/pnas.0500760102" @default.
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