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GEMC1 is a critical regulator of multiciliated cell differentiation (CROSBI ID 227714)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Terré, Berta ; Piergiovanni, Gabriele ; Segura- Bayona, Sandra ; Gil-Gómez, Gabriel ; Youssef, Sameh A ; Attolini, Camille Stephan-Otto ; Wilsch-Bräuninger, Michaela ; Jung, Carole ; Rojas, Ana M ; Marjanović, Marko et al. GEMC1 is a critical regulator of multiciliated cell differentiation // EMBO journal, 35 (2016), 9; 942-960. doi: 10.15252/embj.201592821

Podaci o odgovornosti

Terré, Berta ; Piergiovanni, Gabriele ; Segura- Bayona, Sandra ; Gil-Gómez, Gabriel ; Youssef, Sameh A ; Attolini, Camille Stephan-Otto ; 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 ; de Bruin, Alain ; Costanzo, Vincenzo ; Stracker, Travis H

engleski

GEMC1 is a critical regulator of multiciliated cell differentiation

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.

cilia ; ciliopathy ; hydrocephaly ; infertility ; transcription

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Podaci o izdanju

35 (9)

2016.

942-960

objavljeno

0261-4189

10.15252/embj.201592821

Povezanost rada

Temeljne medicinske znanosti, Biologija

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