Expanding horizons: ciliary proteins reach beyond cilia

Annu Rev Genet. 2013:47:353-76. doi: 10.1146/annurev-genet-111212-133243. Epub 2013 Sep 6.

Abstract

Once obscure, the cilium has come into the spotlight during the past decade. It is now clear that aside from generating locomotion by motile cilia, both motile and immotile cilia serve as signaling platforms for the cell. Through both motility and sensory functions, cilia play critical roles in development, homeostasis, and disease. To date, the cilium proteome contains more than 1,000 different proteins, and human genetics is identifying new ciliopathy genes at an increasing pace. Although assigning a function to immotile cilia was a challenge not so long ago, the myriad of signaling pathways, proteins, and biological processes associated with the cilium have now created a new obstacle: how to distill all these interactions into specific themes and mechanisms that may explain how the organelle serves to maintain organism homeostasis. Here, we review the basics of cilia biology, novel functions associated with cilia, and recent advances in cilia genetics, and on the basis of this framework, we further discuss the meaning and significance of ciliary connections.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Animals
  • Bardet-Biedl Syndrome / genetics
  • Bardet-Biedl Syndrome / physiopathology
  • Cell Movement
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / physiopathology
  • Cerebellum / abnormalities
  • Cilia / physiology*
  • Cilia / ultrastructure
  • Ciliary Motility Disorders / genetics
  • Ciliary Motility Disorders / physiopathology
  • DNA Damage
  • DNA Repair
  • Disease Models, Animal
  • Encephalocele / genetics
  • Encephalocele / physiopathology
  • Eye Abnormalities / genetics
  • Eye Abnormalities / physiopathology
  • Flagella / physiology
  • Flagella / ultrastructure
  • Heterotaxy Syndrome / genetics
  • Heterotaxy Syndrome / physiopathology
  • Homeostasis
  • Humans
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / physiopathology
  • Molecular Motor Proteins / physiology
  • Nervous System / cytology
  • Polycystic Kidney Diseases / genetics
  • Polycystic Kidney Diseases / physiopathology
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / physiopathology
  • Polycystic Kidney, Autosomal Recessive / genetics
  • Polycystic Kidney, Autosomal Recessive / physiopathology
  • Retina / abnormalities
  • Retina / physiopathology
  • Retinitis Pigmentosa

Substances

  • Molecular Motor Proteins

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Meckel syndrome type 1
  • Nephronophthisis, familial juvenile