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Motion that powers sperm provides key to unravelling rare genetic disorder

rk is akin to trying to surf a crowd at a concert. If everyone works together, supports you and pushes you in the same direction you can sail across on top of the crowd. If they don't you soon come down crashing to the ground. They must be synchronised so they work together in a wave like motion. A second type of cilium which is much more common but don't beat together, serves to sense the environment surrounding the cell. If these key cellular function breakdown there can be a huge knock-on effect on normal running of the cell.

"The next step is to find out how mutations interfere with this process and either prevent them or develop an effective treatment."

To establish which genes play a role in the development of cilia and flagella the researchers compared the genetic make up of algae and C. elegans, a worm commonly used in genetic research, with the family of vegetables that the give rise to broccoli, sprouts and cabbage and known not to contain flagella and cilia.

Results identified 688 genes not present in the Arabidopsis family of vegetables. To narrow down which of these genes is responsible for flagella and cilia development the team removed the hair like extensions from a cell and observed which genes were activated to make them grow new copies. Amongst these genes required to make a new flagellum were all the previously identified BBS genes as well as several novel genes of unknown function.

By screening over 250 DNA samples from families with BBS, mutations were found in one of these new genes, now called BBS5.

Dr. Beales added: "Not only does the discovery of BBS5 help us to more accurately diagnose BBS it will enable couples at risk of having further affected children to benefit from prenatal diagnosis.

"We are currently investigating the role of this and other BBS genes in causing the disease in the hope that one day we may be able to develop effective treatments to alleviate some of the problems en
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Contact: Judith H Moore
judith.moore@ucl.ac.uk
44-0-20-7679-7678
University College London
13-May-2004


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