期刊
NATURE COMMUNICATIONS
卷 8, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms14907
关键词
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资金
- INSERM
- French National Research Agency [ANR-10-INSB-04]
- LabEX BRAIN [ANR-10-LABX-43]
- , Region Aquitaine
- ANR GHearAct [ANR-14-CE13-0013-01]
- MRT fellowship
- ENC Neurasmus Ph.D. fellowship
- FRM '4eme annee de these' [FDT20150532542]
- DFG
- ICePha
- NIDCD Division of Intramural Research/NIH [DC000048-19]
- BBSRC [BB/M00659X/1] Funding Source: UKRI
- Agence Nationale de la Recherche (ANR) [ANR-14-CE13-0013] Funding Source: Agence Nationale de la Recherche (ANR)
- Biotechnology and Biological Sciences Research Council [BB/M00659X/1] Funding Source: researchfish
- Rosetrees Trust [M58-F1] Funding Source: researchfish
Mutations in GPSM2 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness and brain anomalies. Here, we show that mutation of the mouse orthologue of GPSM2 affects actin-rich stereocilia elongation in auditory and vestibular hair cells, causing deafness and balance defects. The G-protein subunit G alpha(i3), a well-documented partner of Gpsm2, participates in the elongation process, and its absence also causes hearing deficits. We show that Gpsm2 defines an similar to 200 nm nanodomain at the tips of stereocilia and this localization requires the presence of G alpha(i3), myosin 15 and whirlin. Using single-molecule tracking, we report that loss of Gpsm2 leads to decreased outgrowth and a disruption of actin dynamics in neuronal growth cones. Our results elucidate the aetiology of CMCS and highlight a new molecular role for Gpsm2/G alpha(i3) in the regulation of actin dynamics in epithelial and neuronal tissues.
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