1995
DOI: 10.1038/ng1195-328
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Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans

Abstract: Melanin pigmentation protects the skin from the damaging effects of ultraviolet radiation (UVR). There are two types of melanin, the red phaeomelanin and the black eumelanin, both of which are present in human skin. Eumelanin is photoprotective whereas phaeomelanin, because of its potential to generate free radicals in response to UVR, may contribute to UV-induced skin damage. Individuals with red hair have a predominance of phaeomelain in hair and skin and/or a reduced ability to produce eumelanin, which may … Show more

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Cited by 906 publications
(728 citation statements)
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“…Some variants, such as V92M and V60L, were thought to be linked to red hair and pale skin (Valverde et al, 1995), and were later found in individuals with other types of normal pigmentation (Box et al, 1997;Koppula et al, 1997). R151C, R160W, and D294H have been linked to red hair and pale skin by most of the previous studies.…”
Section: Resultsmentioning
confidence: 98%
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“…Some variants, such as V92M and V60L, were thought to be linked to red hair and pale skin (Valverde et al, 1995), and were later found in individuals with other types of normal pigmentation (Box et al, 1997;Koppula et al, 1997). R151C, R160W, and D294H have been linked to red hair and pale skin by most of the previous studies.…”
Section: Resultsmentioning
confidence: 98%
“…UV radiation was also found to increase the activity of these receptors in mouse melanoma cells (Chakraborty and Pawelek, 1993). In humans MC1R variants have been associated with sunsensitive skin types I and II (Valverde et al, 1995;Koppula et al, 1997), suggesting a predisposition to cancer in individuals with MC1R mutations. Specific variants that have been found to be associated with the red hair and pale skin phenotype; R151C, R160W and D294H (Box et al, 1997;Smith et al, 1998) were found to be significantly associated with cutaneous malignant melanoma (CMM) (Palmer et al, 2000).…”
Section: Introductionmentioning
confidence: 92%
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“…Five receptors (MC-1R -MC-5R) have been cloned to date (Mountjoy et al, 1992) and MC-1R is expressed on human keratinocytes, melanocytes and melanoma cells (Donatien et al, 1992;De Luca et al, 1993;Bohm et al, 1999). Loss-of-function polymorphic variants exist (Valverde et al, 1995) and are associated with red-haired individuals who pigment poorly (Schiöth et al, 1999). Reports also suggest that MC-1R polymorphisms correlate with cutaneous melanoma (Box et al, 1997;Jiménez-Cervantes et al, 2001), although not all studies have confirmed this (Ichii-Jones et al, 1998).…”
mentioning
confidence: 99%
“…It is also worth drawing attention to apparent discrepancies in the literature. First, studies relating phenotype to genotype need to take account of which alleles are thought to be important (1,38,39,(45)(46)(47)(48)(49)(50). If only some alleles are studied, then genuine associations may be missed; this indeed seems to be the case.…”
Section: The Diversity Of Mc1r Allelesmentioning
confidence: 99%