By comparing three different species genomes and adding some good old-fashioned genetic analysis, scientists have uncovered the identity of the last of eight genes known to contribute to Bardet-Biedl syndrome, a rare disorder characterized by a combination of some otherwise common problems, including obesity, learning difficulties, diabetes and asthma.
The identification of the BBS3 gene ends the search for primary BBS-causing genes in families studied for years by a team of scientists from the United States, Canada and the United Kingdom. However, the scientists are still hunting for other, less obvious genetic influences in these families.
Writing in the Aug. 15 advance online section of Nature Genetics, the international team reports that BBS3 is actually a gene formerly known as ARL6. Importantly, ARL6 is the first BBS culprit to belong to a family of genes and proteins with a known function, opening the door to figuring out whats really happening in people with the condition.
Joanna Downer | EurekAlert!
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