The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration

Article Article scientifique Article The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration eng 2022-06-16 2022-06-16 author Mercey Olivier 943499 Département de biologie moléculaire et cellulaire (MOCEL) author Kostic Corinne 0000-0003-1006-9733 29454 author Bertiaux Eloise 917034 author Giroud Alexia 966680 author Sadian Yashar 917818 author Gaboriau David C. A. author Morrison Ciaran 980611 author Chang Ning author Arsenijevic Yvan 0000-0001-6960-1291 22922 author Guichard Paul 0000-0002-0363-1049 845268 Département de biologie moléculaire et cellulaire (MOCEL) author Hamel Virginie 0000-0001-5092-2343 846734 Département de biologie moléculaire et cellulaire (MOCEL) e3001649 10.1371/journal.pbio.3001649 35709082 1544-9173 PMC9202906 https://dx.plos.org/10.1371/journal.pbio.3001649 <p> Inherited retinal degeneration due to loss of photoreceptor cells is a leading cause of human blindness. These cells possess a photosensitive outer segment linked to the cell body through the connecting cilium (CC). While structural defects of the CC have been associated with retinal degeneration, its nanoscale molecular composition, assembly, and function are barely known. Here, using expansion microscopy and electron microscopy, we reveal the molecular architecture of the CC and demonstrate that microtubules are linked together by a CC inner scaffold containing POC5, CENTRIN, and FAM161A. Dissecting CC inner scaffold assembly during photoreceptor development in mouse revealed that it acts as a structural zipper, progressively bridging microtubule doublets and straightening the CC. Furthermore, we show that Fam161a disruption in mouse leads to specific CC inner scaffold loss and triggers microtubule doublet spreading, prior to outer segment collapse and photoreceptor degeneration, suggesting a molecular mechanism for a subtype of retinitis pigmentosa. </p> Dewey 570 European Commission Unravelling the architecture and the cartography of the human centriole 715289 ACCENT EU H2020 7daed2ee-1311-4824-9df9-2e51260a966a Département de biologie moléculaire et cellulaire 16484 false PLoS biology 20 6 eaab9da4-98ec-4492-a713-3c9b11673e5a Article (Published version) Public Article-scientifique-from-unpaywall.pdf 4530202 application/pdf CC BY-4.0 9882d45334f5c74347633af073c8496749a269bcf94557b3eb7cac1443fd3a48 openAccess Faculté des sciences / Section de biologie / Département de biologie moléculaire et cellulaire

Title	Published in	Year	Views	Downloads

The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration	PLoS biology	2022	128	76
Hunchback-independent silencing of late Ubx enhancers by a Polycomb Group Response Element	EMBO journal	1996	445	0

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