Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

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Title: Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
Author: Bizet, Albane A.; Becker-Heck, Anita; Ryan, Rebecca; Weber, Kristina; Filhol, Emilie; Krug, Pauline; Halbritter, Jan; Delous, Marion; Lasbennes, Marie-Christine; Linghu, Bolan; Oakeley, Edward J.; Zarhrate, Mohammed; Nitschké, Patrick; Garfa-Traore, Meriem; Serluca, Fabrizio; Yang, Fan; Bouwmeester, Tewis; Pinson, Lucile; Cassuto, Elisabeth; Dubot, Philippe; Elshakhs, Neveen A. Soliman; Sahel, José A.; Salomon, Rémi; Drummond, Iain A.; Gubler, Marie-Claire; Antignac, Corinne; Chibout, Salahdine; Szustakowski, Joseph D.; Hildebrandt, Friedhelm; Lorentzen, Esben; Sailer, Andreas W.; Benmerah, Alexandre; Saint-Mezard, Pierre; Saunier, Sophie

Note: Order does not necessarily reflect citation order of authors.

Citation: Bizet, A. A., A. Becker-Heck, R. Ryan, K. Weber, E. Filhol, P. Krug, J. Halbritter, et al. 2015. “Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.” Nature Communications 6 (1): 8666. doi:10.1038/ncomms9666. http://dx.doi.org/10.1038/ncomms9666.
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Abstract: Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos. Our findings highlight the regulation of cytoplasmic microtubule dynamics as a role of the IFT54 protein beyond the cilium, contributing to the development of NPH-related ciliopathies.
Published Version: doi:10.1038/ncomms9666
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617596/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:23993556
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