The ciliopathies: an emerging class of human genetic disorders

JL Badano, N Mitsuma, PL Beales… - Annu. Rev. Genomics …, 2006 - annualreviews.org
Annu. Rev. Genomics Hum. Genet., 2006annualreviews.org
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of
fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their
stringent evolutionary conservation, defects in cilia are associated with a range of human
diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney
disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary …
Abstract
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.
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