Open Access
Review
Cilia/Ift protein and motor-related bone diseases and mouse models
Xue Yuan1,Shuying Yang1,2,*
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
DOI: 10.2741/4323 Volume 20 Issue 3, pp.515-555
Published: 01 January 2015
(This article belongs to the Special Issue Skeletal biology and diseases)
*Corresponding Author(s):  
Shuying Yang
E-mail:  
sy47@buffalo.edu
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.

Key words
Ift proteins,Ift motors,Ciliopathies,Mouse models,bone,ENU,Gene trap,Knockout,Review
Share and Cite
Xue Yuan, Shuying Yang. Cilia/Ift protein and motor-related bone diseases and mouse models. Frontiers in Bioscience-Landmark. 2015. 20(3); 515-555.