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

isease called Bardet Biedl syndrome, developed by the laboratory of Dr. James Lupski (http://www.bcm.edu/genetics/index.cfm?pmid=10944) professor of molecular and human genetics at BCM, Wensel and first author Gilliam saw something that was almost shocking a huge accumulation of these vesicles. The Bardet Biedl genes contain the code for a BBsome that forms a membrane coat that makes transport possible through the connecting cilium to the outer coat.

"We would now surmise that the BBsome coat is required for fusion of the plasma membrane or transport up to the outer segment," said Wensel. "It gives us a whole new model for how this works. We need to do more now to nail it down."

"It suggests that aberrant trafficking of proteins is responsible for photoreceptor degeneration," said Gilliam, who is now a postdoctoral associate at The University of Texas Health Science Center at Houston.


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Contact: Graciela Gutierrez
ggutierr@gmail.com
713-798-4710
Baylor College of Medicine
Source:Eurekalert

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