期刊
ANNUAL REVIEW OF GENETICS, VOL 47
卷 47, 期 -, 页码 353-376出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genet-111212-133243
关键词
left-right asymmetry; Joubert syndrome; intraflagellar transport; zebrafish; heterotaxy; polycystic kidney disease
资金
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [T32HD007094] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [P30DK090744, R01DK092808] Funding Source: NIH RePORTER
- NICHD NIH HHS [T32 HD007094, 5T32HD00709436] Funding Source: Medline
- NIDDK NIH HHS [1P30DK090744, P30 DK090744, R01 DK092808] Funding Source: Medline
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.
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