The actin motor protein myosin VI is a multivalent protein with diverse functions. Here, we identified and characterised a myosin VI ubiquitous interactor, the oral-facial-digital syndrome 1 (OFD1) protein, whose mutations cause malformations of the face, oral cavity, digits and polycystic kidney disease. We found that myosin VI regulates the localisation of OFD1 at the centrioles and, as a consequence, the recruitment of the distal appendage protein Cep164. Myosin VI depletion in non-tumoural cell lines causes an aberrant localisation of OFD1 along the centriolar walls, which is due to a reduction in the OFD1 mobile fraction. Finally, loss of myosin VI triggers a severe defect in ciliogenesis that could be, at least partially, ascribed to an impairment in the autophagic removal of OFD1 from satellites. Altogether, our results highlight an unprecedent layer of regulation of OFD1 and a pivotal role of myosin VI in coordinating the formation of the distal appendages and primary cilium with important implications for the genetic disorders known as ciliopathies.

Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1 / E. Magistrati, G. Maestrini, C.A. Nino, M. Lince-Faria, G. Beznoussenko, A. Mironov, E. Maspero, M. Bettencourt-Dias, S. Polo. - In: EMBO REPORTS. - ISSN 1469-221X. - 23:3(2022 Feb), pp. e54160.1-e54160.19. [10.15252/embr.202154160]

Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1

E. Magistrati
Primo
;
G. Maestrini
Secondo
;
E. Maspero;S. Polo
2022

Abstract

The actin motor protein myosin VI is a multivalent protein with diverse functions. Here, we identified and characterised a myosin VI ubiquitous interactor, the oral-facial-digital syndrome 1 (OFD1) protein, whose mutations cause malformations of the face, oral cavity, digits and polycystic kidney disease. We found that myosin VI regulates the localisation of OFD1 at the centrioles and, as a consequence, the recruitment of the distal appendage protein Cep164. Myosin VI depletion in non-tumoural cell lines causes an aberrant localisation of OFD1 along the centriolar walls, which is due to a reduction in the OFD1 mobile fraction. Finally, loss of myosin VI triggers a severe defect in ciliogenesis that could be, at least partially, ascribed to an impairment in the autophagic removal of OFD1 from satellites. Altogether, our results highlight an unprecedent layer of regulation of OFD1 and a pivotal role of myosin VI in coordinating the formation of the distal appendages and primary cilium with important implications for the genetic disorders known as ciliopathies.
OFD1; autophagy receptor; centrioles; myosin VI; primary cilium
Settore MED/04 - Patologia Generale
feb-2022
27-dic-2021
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/904363
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