Exon resequencing of PMEL in Swedish melanoma patients

• Interplay between ultraviolet radiation and skin pigmentation appears to be one of the major risk factors for melanoma development. Allelic variants in a number of pigmentation genes have been associated with increased melanoma susceptibility. PMEL is a melanosomal membrane protein primarily involved in eumelanin synthesis. PMEL functional mutations resulting in hypopigmentation have been identified in a number of vertebrate species, including Dominant white in chickens, Silver in horses, and Merle in dogs. A complete loss of PMEL in transgenic mice had a dramatic effect on the morphology of the melanosomes in skin, hair, and eye, and led to a substantial reduction in the content of eumelanin. No human PMEL mutation associated with any phenotypic effects or disorders has yet been reported. In this study we have investigated the possibility that PMEL mutations may be associated with an increased susceptibility to melanoma in a Nordic polulation by sequencing all 11 exons of PMEL in a cohort of 60 Swedish melanoma patients with a history of familial melanoma. No mutations, apart from the two synonymous SNPs common in general European populations, were found, demonstrating that PMEL mutations do not appear to be a common cause for melanoma susceptibility.

Nyckelord

pigmentation

melanoma

PMEL

Publikations- och innehållstyp

vet (ämneskategori)

kon (ämneskategori)