New insights into cilia reveal relation to inherited disorders 

The ciliopathies are a group of inherited disorders caused by genetic mutations. Defective proteins encoded by these mutated genes cause the abnormal formation or function of cilia, which play a critical role in coordinating cell signalling pathways.

Cilia are microscopic, hair-like organelles that extend from the surface of almost all vertebrate cells, and function as sensory cellular antennae. Diseases resulting from primary ciliary dysfunction are a manifestation of abnormal signal transduction and include retinal degeneration, as well as diseases of the kidney, brain, and skeleton. 

Primary cilia were discovered in 1898, their importance was only recently unveiled but their biology remains mysterious.

However, a team of researchers, led by Colin A. Johnson from the University of Leeds in the UK and a number of researchers from King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia, used a functional genomics screen to identify genes involved in the formation or maintenance of cilia. 

The team identified 112 genes that play significant roles in cilia formation and functioning, including genes encoding for components of the ubiquitin–proteasome system, G protein-coupled receptors, and pre-messenger RNA processing factors. 

By combining the screen with exome sequencing data, the researchers also identified mutations in the genes CEP90/PIBF1 and LRRC76/C21orf2 as being causes of the ciliopathies known as Joubert and Jeune syndromes.

 “Our unbiased screen has interrogated the contribution of every gene in the human genome to the processes of cilium formation,” says Johnson “This provides a rich resource for new insights into disease mechanisms of ciliopathies.” 

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