IMR Press / FBL / Volume 20 / Issue 3 / DOI: 10.2741/4323

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Review
Cilia/Ift protein and motor-related bone diseases and mouse models
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1 Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, 3435 Main Street, Buffalo, NY, 14214, USA
2 Developmental Genomics Group, New York State Center of Excellence in Bioinformatics and Life Sciences, University at Buffalo, The State University of New York, 701 Ellicott St, Buffalo, NY, 14203, USA
Front. Biosci. (Landmark Ed) 2015, 20(3), 515–555; https://doi.org/10.2741/4323
Published: 1 January 2015
Abstract

Primary cilia are essential cellular organelles projecting from the cell surface to sense and transduce developmental signaling. They are tiny but have complicated structures containing microtubule (MT)-based internal structures (the axoneme) and mother centriole formed basal body. Intraflagellar transport (Ift) operated by Ift proteins and motors are indispensable for cilia formation and function. Mutations in Ift proteins or Ift motors cause various human diseases, some of which have severe bone defects. Over the last few decades, major advances have occurred in understanding the roles of these proteins and cilia in bone development and remodeling by examining cilia/Ift protein-related human diseases and establishing mouse transgenic models. In this review, we describe current advances in the understanding of the cilia/Ift structure and function. We further summarize cilia/Ift-related human diseases and current mouse models with an emphasis on bone-related phenotypes, cilia morphology, and signaling pathways.

Keywords
Ift proteins
Ift motors
Ciliopathies
Mouse models
bone
ENU
Gene trap
Knockout
Review
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