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EMBO J. 2018 May 15;37(10). pii: e97791. doi: 10.15252/embj.201797791. Epub 2018 Apr 12.

Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

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Institute for Animal Developmental and Molecular Biology, Heinrich Heine University, Düsseldorf, Germany.
Center for Advanced Imaging (CAi), Heinrich Heine University, Düsseldorf, Germany.
INSERM, U983, Hôpital Necker-Enfants Malades, Paris, France.
Sorbonne Paris Cité, Faculté de Médecine, Université Paris-Descartes, Paris, France.
Paris-Seine (IBPS) - Developmental Biology Laboratory, Institut de Biologie, CNRS, UMR7622, INSERM U1156, Paris, France.
Sorbonne Universités, UPMC Univ Paris 06, Paris, France.
Institute for Animal Developmental and Molecular Biology, Heinrich Heine University, Düsseldorf, Germany


Ciliopathies are life-threatening human diseases caused by defective cilia. They can often be traced back to mutations of genes encoding transition zone (TZ) proteins demonstrating that the understanding of TZ organisation is of paramount importance. The TZ consists of multimeric protein modules that are subject to a stringent assembly hierarchy. Previous reports place Rpgrip1l at the top of the TZ assembly hierarchy in Caenorhabditis elegans By performing quantitative immunofluorescence studies in RPGRIP1L-/- mouse embryos and human embryonic cells, we recognise a different situation in vertebrates in which Rpgrip1l deficiency affects TZ assembly in a cell type-specific manner. In cell types in which the loss of Rpgrip1l alone does not affect all modules, additional truncation or removal of vertebrate-specific Rpgrip1 results in an impairment of all modules. Consequently, Rpgrip1l and Rpgrip1 synergistically ensure the TZ composition in several vertebrate cell types, revealing a higher complexity of TZ assembly in vertebrates than in invertebrates.


Nphp; Rpgrip1; Rpgrip1l; cilia; ciliopathies

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