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The primary cilium in different tissues—lessons from patients and animal models

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Abstract

Primary cilia are specialized organelles consisting of an axoneme anchored to the plasma membrane through the basal body consisting of two centrioles. They protrude from the cell surface of almost all mammalian cells. Mutations in genes encoding for ciliary proteins cause ciliopathies, which are characterized by a wide spectrum of phenotypes, including polycystic kidney, hepatic disease, malformations in the central nervous system, skeletal defects, retinal degeneration, and obesity. Both clinical studies and animal models have revealed that during embryogenesis, primary cilium play an essential role in defining the correct patterning of the body. In this study, we focused our attention on the tissues mainly affected in ciliopathies, such as the kidney, liver, and central nervous system. Emerging studies reveal that the primary cilium may play similar roles, leading to distinct functions according to the different cell type and developmental stages. The state of the art in primary cilia studies reveals a very complex role. The aim of this review is to evaluate the recent advances in the function of primary cilia in different tissues, underlining similarities and differences.

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Acknowledgments

We apologize to our colleagues whose insightful work was not included due to size constraints. This work was supported by a grant from the Italian Telethon Foundation and grant EUCILIA-HEALTH-F2-2007-201804.

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  1. Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy

    Anna D’Angelo & Brunella Franco

  2. Medical Genetics, Department of Pediatrics, Federico II University, Naples, Italy

    Brunella Franco

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  1. Anna D’Angelo
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Correspondence to Brunella Franco.

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D’Angelo, A., Franco, B. The primary cilium in different tissues—lessons from patients and animal models. Pediatr Nephrol 26, 655–662 (2011). https://doi.org/10.1007/s00467-010-1650-7

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  • DOI: https://doi.org/10.1007/s00467-010-1650-7

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