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GEMC 1 is a critical regulator of multiciliated cell differentiation
Author(s) -
Terré Berta,
Piergiovanni Gabriele,
SeguraBayona Sandra,
GilGómez Gabriel,
Youssef Sameh A,
Attolini Camille StephanOtto,
WilschBräuninger Michaela,
Jung Carole,
Rojas Ana M,
Marjanović Marko,
Knobel Philip A,
Palenzuela Lluís,
LópezRovira Teresa,
Forrow Stephen,
Huttner Wieland B,
Valverde Miguel A,
Bruin Alain,
Costanzo Vincenzo,
Stracker Travis H
Publication year - 2016
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.15252/embj.201592821
Subject(s) - biomedicine , library science , humanities , biology , art , bioinformatics , computer science
The generation of multiciliated cells ( MCC s) 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 GEMC 1 ( GMNC ), a protein with a similar domain organization as Multicilin that has been implicated in DNA replication control. We have found that GEMC 1‐deficient mice are growth impaired, develop hydrocephaly with a high penetrance, and are infertile, due to defects in the formation of MCC s in the brain, respiratory tract, and germline. Our data demonstrate that GEMC 1 is a critical regulator of MCC differentiation and a candidate gene for human RGMC or related disorders.