Nature Genetics pp 160 - 165

Familial cylindromatosis is better known by the name 'turban tumour', which describes the appearance of those with the condition. Patients develop large numbers of small tumours-called cylindromas because of their characteristic microscopic architecture-in the surface layers of the skin, mainly on the neck and scalp. Whereas the tumours are usually benign, they can frequently become infected and ulcerated, resulting in severe disfigurement and discomfort that, in severe cases, can only be treated by reconstructive surgery with skin grafts.

The genetic mutation underlying the condition was previously localized on chromosome 16. Michael Stratton (of the Institute of Cancer Research, Surrey) and colleagues now report identification of the gene. Designated CYLD, the gene encodes a protein that would seem to control the proliferation of cells-which comes as a surprise, because it contains sequences that are not present in other proteins that, when defective, cause tumours to form. This finding should lead to a better understanding of the cellular processes that lead to tumorigenesis.

Nature Genetics pp 177 - 181 and pp 135 - 136

Systemic lupus erythematosus-or 'lupus' for short-is a common autoimmune disorder that affects millions of people worldwide. The condition causes the body's own immune system to attack the DNA and protein components within cells, and induces symptoms of arthritis, lesions in the skin and nervous system, inflammation of blood vessels and kidney failure. But exactly what causes lupus is unclear.

One of a number of factors thought to contribute to lupus is an inability to clear DNA and protein debris from cells-in other words, not taking out the 'cellular trash' that's left over when cells die. If the body can't get rid of this trash, it may mount an immune response against it. The process of cellular trash removal is carried out by special proteins that eliminate leftover DNA and proteins. The main factor responsible for degrading the garbage DNA is an enzyme known as DNase1, which chops long DNA strands into small pieces to enable their removal. DNase1 has long been known to have low levels of activity in individuals with lupus.

A new study by the groups of Tarik Möröy (of the Institut für Zellbiologie, Essen) and Hans-Georg Mannherz (of the Institut für Anatomie und Embryologie, Bochum) provides the first direct evidence that deficient DNase1 function leads to lupus. The researchers inactivated the gene encoding DNase1 in mice and found that, despite being healthy at birth, they began to develop disease symptoms similar to lupus after 6-8 months. Moreover, the mutant mice also have immune responses that mimic those seen in lupus patients. As pointed out in an accompanying News & Views article by Mark Walport (of the Imperial College of Science, Technology and Medicine, London), potential therapies based on this work are a viable option to treatment of the disease.