Researchers have found a gene that, when mutated, leads to numerous skin tumors on the neck and scalp. The gene is unlike any gene known to cause tumors, and it may help identify new molecular pathways leading to cancer.
Cylindromatosis is a rare condition also known as "turban tumor" because of the nonmalignant but extremely disfiguring swellings, which occur mostly on hairy parts of the head. In 1995, molecular biologist Michael Stratton, then at the Institute of Cancer Research in Surrey, United Kingdom, and colleagues pinpointed the location of the gene to a stretch on chromosome 16. Now, they have identified and cloned the full gene, known as CYLD.
The team doesn't yet know the function of the protein encoded by CYLD. But an analysis of its amino acid sequence shows that some parts resemble proteins that help the organelles within a cell bind to microtubules, minuscule "railway tracks" along which the organelles move. Other parts of the CYLD protein are reminiscent of enzymes that control ubiquitin, a protein marker that labels other proteins for degradation and removal from a cell, the team reports in the June issue of Nature Genetics. "Disruptions in one or both of these interactions might cause a cell to become a tumor cell," says Stratton, now with the Sanger Centre near Cambridge. Because neither of these roles had previously been associated with cancer, the gene may lead researchers to a new mechanism of tumor formation, he says.
Columbia University cancer geneticist Ramon Parsons agrees. "This is a very thorough, definitive study," he says. "Future work stemming from this research should prove very exciting."