2026-04-17T04:24:19Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1040232025-12-04T19:33:04Zcom_2072_1057col_2072_478908col_2072_478917

00925njm 22002777a 4500 dc Terré, Berta author Piergiovanni, Gabriele author Segura Bayona, Sandra author Gil Gómez, Gabriel author Youssef, Sameh A. author Stephan-Otto Attolini, Camille author Wilsch‐Bräuninger, Michaela author Jung, Carole author Rojas, Ana M. author Marjanović, Marko author Knobel, Philip A. author Palenzuela, Lluís author López Rovira, Teresa author Forrow, Stephen author Huttner, Wieland B. author Valverde, Miguel Ángel author Bruin, Alain de author Costanzo, Vincenzo author Stracker, Travis H. author 2016-11-21T11:27:16Z 2016-11-21T11:27:16Z 2016-03-01 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. Cèl·lules acústiques Aparell respiratori Esterilitat Hair cells Respiratory organs Infertility GEMC1 is a critical regulator of multiciliated cell differentiation