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NIH study reveals gene critical to the early development of cilia
Date:7/1/2014

Researchers at the National Eye Institute (NEI) have described the functions of a gene responsible for anchoring cilia sensory hair-like extensions present on almost every cell of the body. They show in a mouse model that without the gene Cc2d2a, cilia throughout the body failed to grow, and the mice died during the embryonic stage. The finding adds to an expanding body of knowledge about ciliopathies, a class of genetic disorders that result from defects in the structure or function of cilia. NEI is part of the National Institutes of Health.

The findings are published in the online journal Nature Communications. Senior author Anand Swaroop, Ph.D., is chief of the NEI laboratory of Neurobiology-Neurodegeneration and Repair. Lead author Shobi Veleri, Ph.D., is a research fellow in the laboratory.

Cilia are responsible for cell communication and play a key role in the receptor cells of sensory systems. For example, they are essential for odor detection in the nose and light reception in the eye. Because cilia are such a key element of cells, defects in genes that are involved in cilia development or function can cause complicated syndromes involving multiple organs and tissues

Bardet-Biedl and Joubert syndromes are examples of ciliopathies with symptoms that include deafness, kidney disease, and degeneration of the retina. Meckel syndrome is a ciliopathy so dangerous babies with the genetic defect rarely make it to term.

On individual cells, cilia grow from the basal body, a circular dent on the outer membrane acting as a platform. Supporting structures called distal and subdistal appendages, which are like the flying buttresses supporting Notre Dame Cathedral, anchor the platform in the basal body, priming it for the growth of cilia. Once anchored, the structures that form the cilium begin to extend from the site. Inside are a variety of proteins essential to maintain the cilium. Cc2d2a is believed to make a structural pro
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Contact: Jean Horrigan
neinews@nei.nih.gov
301-496-5248
NIH/National Institute on Deafness and Other Communication Disorders
Source:Eurekalert

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