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Exon resequencing of PMEL in Swedish melanoma patients
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2012 (English)In: The melanocyte and its environment: proceedings of the 17th Meeting of the Society for Pigment Cell Research, Bologna, Italy: Medimond , 2012, 15-18 p.Conference paper, Published paper (Other academic)
Abstract [en]

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.

Place, publisher, year, edition, pages
Bologna, Italy: Medimond , 2012. 15-18 p.
Series
Medimond International Proceedings
Keyword [en]
pigmentation, melanoma, PMEL
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-210352ISI: 000325106100003ISBN: 978-88-7587-678-4 (print)OAI: oai:DiVA.org:uu-210352DiVA: diva2:662137
Conference
17th Meeting of the Society for Pigment Cell Research; 11-13 September 2012; Geneva, Switzerland
Available from: 2013-11-06 Created: 2013-11-05 Last updated: 2013-11-06Bibliographically approved

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Golovko, AnnaBarrio, Alvaro Martinez

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