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Architecture of rod sensory cilium disrupted by mutation
Date:11/21/2012

HOUSTON (Nov. 22, 2012) Using a new technique called cryo-electron tomography, two research teams at Baylor College of Medicine (www.bcm.edu) have created a three-dimensional map that gives a better understanding of how the architecture of the rod sensory cilium (part of one type of photoreceptor in the eye) is changed by genetic mutation and how that affects its ability to transport proteins as part of the light-sensing process.

Almost all mammalian cells have cilia. Some are motile and some are not. They play a central role in cellular operations, and when they are defective because of genetic mutations, people can go blind, have cognitive defects, develop kidney disease, grow too many fingers or toes or become obese. Such mutations cause cilia defects known in the aggregate as ciliopathies.

"The major significance of this report lies in our being able to, for the first time, look in three dimensions at the structural alterations in ciliopathies," said Dr. Theodore G. Wensel (http://www.bcm.edu/biochem/index.cfm?pmid=3795), chair of biochemistry and molecular biology at BCM and corresponding author of the report that appears in the journal Cell (www.cell.com). The report is spotlighted on the issue's cover.

In collaboration with the National Center for Macromolecular Imaging (http://ncmi.bcm.edu/ncmi/), led by Dr. Wah Chiu (http://www.bcm.edu/biochem/index.cfm?pmid=3715), professor of biochemistry and molecular biology at BCM, Wensel and his colleagues established such three dimensional images for cilia in three examples of mice known to have cilopathies.

These mice have genetic mutations that lead to defec
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Contact: Graciela Gutierrez
ggutierr@gmail.com
713-798-4710
Baylor College of Medicine
Source:Eurekalert

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