Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):263-80. doi: 10.1002/ajmg.c.30227.


Motile cilia have long been known to play a role in processes such as cell locomotion and fluid movement whereas the functions of primary cilia have remained obscure until recent years. To date, ciliary dysfunction has been shown to be causally linked to a number of clinical manifestations that characterize the group of human disorders known as ciliopathies. This classification reflects a common or shared cellular basis and implies that it is possible to associate a series of different human conditions with ciliary dysfunction, which allows gaining insight into the cellular defect in disorders of unknown etiology solely based on phenotypic observations. Furthermore, to date we know that the cilium participates in a number of biological processes ranging from chemo- and mechanosensation to the transduction of a growing list of paracrine signaling cascades that are critical for the development and maintenance of different tissues and organs. Consequently, the primary cilium has been identified as a key structure necessary to regulate and maintain cellular and tissue homeostasis and thus its study is providing significant information to understand the pathogenesis of the different phenotypes that characterize these human conditions. Finally, the similarities between different ciliopathies at the phenotypic level are proving to be due to their shared cellular defect and also their common genetic basis. To this end, recent studies are showing that mutations in a given ciliary gene often appear involved in the pathogenesis of more than one clinical entity, complicating their genetic dissection, and hindering our ability to generate accurate genotype-phenotype correlations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Cycle
  • Cilia / pathology*
  • Ciliary Motility Disorders / genetics*
  • Ciliary Motility Disorders / physiopathology
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / physiopathology
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / physiopathology
  • Hedgehog Proteins / metabolism
  • Humans
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / physiopathology
  • Mutation
  • Obesity / genetics
  • Obesity / physiopathology
  • Platelet-Derived Growth Factor / metabolism
  • Polydactyly / genetics
  • Polydactyly / physiopathology
  • Retinal Diseases / genetics
  • Retinal Diseases / physiopathology
  • Signal Transduction
  • Wnt Proteins / metabolism


  • Hedgehog Proteins
  • Platelet-Derived Growth Factor
  • SHH protein, human
  • Wnt Proteins