RT Journal Article
T1 GEMC1 is a critical regulator of multiciliated cell differentiation.
A1 Terré, Berta
A1 Piergiovanni, Gabriele
A1 Segura-Bayona, Sandra
A1 Gil-Gómez, Gabriel
A1 Youssef, Sameh A
A1 Attolini, Camille Stephan-Otto
A1 Wilsch-Bräuninger, Michaela
A1 Jung, Carole
A1 Rojas, Ana M
A1 Marjanović, Marko
A1 Knobel, Philip A
A1 Palenzuela, Lluís
A1 López-Rovira, Teresa
A1 Forrow, Stephen
A1 Huttner, Wieland B
A1 Valverde, Miguel A
A1 de Bruin, Alain
A1 Costanzo, Vincenzo
A1 Stracker, Travis H
K1 cilia
K1 ciliopathy
K1 hydrocephaly
K1 infertility
K1 transcription
AB 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.
YR 2016
FD 2016-03-01
LK http://hdl.handle.net/10668/9885
UL http://hdl.handle.net/10668/9885
LA en
DS RISalud
RD Apr 6, 2025