Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/104023
Title: | GEMC1 is a critical regulator of multiciliated cell differentiation |
Author: | Terré, Berta Piergiovanni, Gabriele Segura Bayona, Sandra Gil Gómez, Gabriel Youssef, Sameh A. Stephan-Otto Attolini, Camille Wilsch‐Bräuninger, Michaela Jung, Carole Rojas, Ana M. Marjanović, Marko Knobel, Philip A. Palenzuela, Lluís López Rovira, Teresa Forrow, Stephen Huttner, Wieland B. Valverde, Miguel Ángel Bruin, Alain de Costanzo, Vincenzo Stracker, Travis H. |
Keywords: | Cèl·lules acústiques Aparell respiratori Esterilitat Hair cells Respiratory organs Infertility |
Issue Date: | 1-Mar-2016 |
Publisher: | European Molecular Biology Organization |
Abstract: | The generation of multiciliated cells (MCCs) is required for the proper function of many tissues, including the respiratory tract, brain, and germline. Defects in MCC development have been demonstrated to cause a subclass of mucociliary clearance disorders termed reduced generation of multiple motile cilia (RGMC). To date, only two genes, Multicilin (MCIDAS) and cyclin O (CCNO) have been identified in this disorder in humans. Here, we describe mice lacking GEMC1 (GMNC), a protein with a similar domain organization as Multicilin that has been implicated in DNA replication control. We have found that GEMC1‐deficient mice are growth impaired, develop hydrocephaly with a high penetrance, and are infertile, due to defects in the formation of MCCs in the brain, respiratory tract, and germline. Our data demonstrate that GEMC1 is a critical regulator of MCC differentiation and a candidate gene for human RGMC or related disorders. |
Note: | Versió postprint del document publicat a: http://doi.org/10.15252/embj.201592821 |
It is part of: | The EMBO Journal, 2016, vol. 35, num. 9, p. 942-960 |
URI: | http://hdl.handle.net/2445/104023 |
Related resource: | http://doi.org/10.15252/embj.201592821 |
ISSN: | 0261-4189 |
Appears in Collections: | Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) Publicacions de projectes de recerca finançats per la UE |
Files in This Item:
File | Description | Size | Format | |
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2771.pdf | Article | 56.56 MB | Adobe PDF | View/Open |
Supp2771.pdf | Appendices | 9.59 MB | Adobe PDF | View/Open |
material-2771-1.xlsx | Data | 8.56 MB | Microsoft Excel XML | View/Open |
material-2771-2.xlsx | Data | 32.46 kB | Microsoft Excel XML | View/Open |
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