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Exon resequencing o...
Exon resequencing of PMEL in Swedish melanoma patients
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- Golovko, Anna (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Brukner, S. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Volker, J. M. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Barrio, Alvaro Martinez (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Hoiom, V. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Hansson, J. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Leif, A. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- Bologna, Italy : Medimond, 2012
- 2012
- English.
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In: The melanocyte and its environment. - Bologna, Italy : Medimond. - 9788875876784 ; , s. 15-18
- Related links:
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https://urn.kb.se/re...
Abstract
Subject headings
Close
- 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.
Keyword
- pigmentation
- melanoma
- PMEL
Publication and Content Type
- vet (subject category)
- kon (subject category)
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