Researchers have discovered a gene which, when mutated, leads to many skin tumors on the neck and scalp. The gene is unlike any gene known to cause tumors and may help identify new molecular pathways leading to cancer.
cylindromatosis is a rare disorder also known as "turban tumor" because of the swellings nonmalignant but extremely disfiguring, occurring mostly on the hairy parts of the head. In 1995, the molecular biologist Michael Stratton, and the Research Institute on Cancer in Surrey, UK, and colleagues identified the location of the gene at a stretch on chromosome 16. Now they have identified and cloned the complete gene, known as CYLD .
team does not yet know the function of the protein encoded by CYLD . But an analysis of its amino acid sequence shows that some parts are similar to proteins that help organelles within a cell binding to microtubules, lowercase "tracks" along which the organelles move. Other parts of the protein CYLD reminiscent of enzymes that control ubiquitin, a marker protein that marks other proteins for degradation and elimination of a cell, the team reports in the June issue of Nature Genetics . "Disturbances in one or the other of these interactions can cause a cell to become a tumor cell," said Stratton, now with the Sanger Centre near Cambridge. Because none of these roles had already been associated with the cancer, the gene may lead researchers to a new tumor formation mechanism, he said.
Columbia University geneticist Ramon Parsons cancer agrees. "This is a very thorough definitive study," he said . "future work from this research should prove very exciting."
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