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

tein needed for cilia growth, but its precise functions have been unclear.

Researchers developed a mouse lacking Cc2d2a to investigate the gene.

When they looked at the tissues of the mutant mice in very early stages of development, researchers found very few to no cilia, suggesting the gene plays a critical role at an early time. Looking closely at where the cilia should exist, the researchers saw that the supporting structures needed for cilia to grow were either completely missing or abnormal. In other experiments, the researchers found that the absence of Cc2d2a affected the activity of other genes and proteins involved in mouse nervous system development, including the key signaling protein, sonic hedgehog.

"This gene appears to play a key role in building structural support for the development of the cilia. Without this support, cilia are prevented from anchoring in the cell," said Dr. Swaroop. "It's like trying to build a house without a foundation. It's a big structural defect."

Studying the function and structure of cilia has become an active field of research that touches on many different organs and biological systems. More than 50 genes, including Cc2d2a have been discovered that, when defective, can lead to abnormal cilia development and ciliopathy in humans. By continuing to study how these genes work and interact, Dr. Swaroop said he hopes to gain further insight into not just how defects in genes related to cilia development in the retina cause vision problems, but the wider impact of these defects across body system and organs.


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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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