The roles of cilia in developmental disorders and disease.
Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. By categorizing syndromes that are due to cilia dysfunction in humans and from studies in vertebrate model organisms, molecular pathways that intersect with cilia formation and function have come to light. Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia.
Bisgrove
Brent W
BW
Huntsman Cancer Institute Center for Children, Department of Oncological Sciences, University of Utah, Salt Lake City, UT 84112, USA.
Yost
H Joseph
HJ
D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000378:metabolism / Q000503:physiopathology; D016764:Cell Polarity; D002923:Cilia / Q000502:physiology* / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000378:metabolism* / Q000503:physiopathology; D005407:Flagella / Q000378:metabolism; D006706:Homeostasis; D006803:Human Development; D006801:Humans; D040542:Mechanotransduction, Cellular / Q000502:physiology; D008870:Microtubules / Q000378:metabolism; D007690:Polycystic Kidney Diseases / Q000378:metabolism / Q000503:physiopathology; D015398:Signal Transduction / Q000502:physiology*; D012857:Situs Inversus