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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 A.
Bruin, Alain de
Costanzo, Vincenzo
Stracker, Travis H.
Keywords: Cèl·lules acústiques
Aparell respiratori
Hair cells
Respiratory organs
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:
It is part of: The EMBO Journal, 2016, vol. 35, num. 9, p. 942-960
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ISSN: 0261-4189
Appears in Collections:Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))

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