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Clinical Chemistry 49: 507-509, 2003; 10.1373/49.3.507
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(Clinical Chemistry. 2003;49:507-509.)
© 2003 American Association for Clinical Chemistry, Inc.

Technical Briefs

Rapid Genotyping of Melanocortin-1 Receptor with Use of Fluorescence-labeled Oligonucleotides

Konstanze Diefenbach1a, Przemyslaw M. Mrozikiewicz1, Britta Brien1, Olfert Landt2 and Ivar Roots1

1 Institute of Clinical Pharmacology, Charité, Humboldt University of Berlin, 10117 Berlin, Germany

2 TIB Molbiol, Syntheselabor, 10829 Berlin, Germany

aaddress correspondence to this author at: Institute for Clinical Pharmacology, University Hospital Charité, Schumannstrasse 20/21, 10117 Berlin, Germany; fax 49-30-450-525932, e-mail konstanze.diefenbach@charite.de

The first 20% of the full text of this article appears below.

The melanocortin-1 receptor (MC1R), localized on chromosome 16q24.3, is a G-protein-coupled receptor expressed mostly in melanocytes. Melanotropic ligands such as {alpha}-melanocyte-stimulating hormone and adrenocorticotropic hormone act via MC1R and regulate the proportion of the photo-protective melanins eumelanin and pheomelanin, which may contribute to ultraviolet (UV) radiation-induced skin damage (1) by favoring the synthesis of eumelanin. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and suffer from increased cutaneous UV sensitivity and why UV irradiation is more dangerous for them. Fair skin and red hair are also associated with an increased risk of cutaneous malignant melanoma (2)(3). Recently, some polymorphic variants of MC1R have been associated with red hair and found to be overrepresented in individuals with fair skin (4)(5)(6)(7), particularly the Arg151Cys, Arg160Trp, and Asp294His . . . [Full Text of this Article]






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