title: Role of intraflagellar transport and primary cilia in skeletal development.
abstract: Primary cilia are nonmotile microtubule-based appendages extending from the surface of almost all vertebrate cells. The process of intraflagellar transport (IFT) is responsible for building and maintaining the structure and function of primary cilia. Disruption of Kif3a, a component of the Kinesin-II motor complex, disables anterograde IFT and leads to failure in the formation and maintenance of cilia. Likewise, the absence of IFT88/Tg737/Polaris, a core component of the IFT particle, results in the loss of cilia. Although primary cilia were described on chondrocytes almost 40 years ago, only recently has the functional significance of IFT and cilia in skeletal development been uncovered through the use of mouse models containing mutations or deletions in genes required to make and maintain cilia. Together, the results indicate that primary cilia/IFT are involved in coordinating multiple signaling pathways within the skeleton.
authors: Department of Cell Biology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. rserra@uab.edu
authors: Rosa
authors: R
authors: Serra
mesh_terms: D000818:Animals; D001692:Biological Transport; D001846:Bone Development; D029742:Caenorhabditis elegans Proteins / Q000235:genetics; D002923:Cilia / Q000502:physiology*; D005407:Flagella / Q000502:physiology*; D053823:Hedgehog Proteins / Q000502:physiology; D006801:Humans; D051379:Mice; D023421:Models, Animal; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics; D015398:Signal Transduction; D050396:TRPP Cation Channels
chemical_list: D029742:Caenorhabditis elegans Proteins; D053823:Hedgehog Proteins; D050396:TRPP Cation Channels; C527777:PKD-2 protein, C elegans