Genetics of Hair and Skin Color

Rees, Jonathan

doi:10.1146/annurev.genet.37.110801.143233

Cited by 410 publications

(325 citation statements)

References 108 publications

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“…The genes that we specifically examined were the following: melanocortin 1 receptor (Mc1r) and its ligand (Asip) (Rees 2003; Microsatellite loci identified at Stanford University were labeled as SU followed by a four-digit number based on their order of identification. Microsatellite loci identified at the Fritz Lipmann Institute were labeled as FLI followed by a four-digit number.…”

Section: Resultsmentioning

confidence: 99%

Mapping Loci Associated With Tail Color and Sex Determination in the Short-Lived Fish Nothobranchius furzeri

Valenzano

Kirschner²,

Kamber

et al. 2009

Genetics

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The African fish Nothobranchius furzeri is the shortest-lived vertebrate species that can reproduce in captivity, with a median life span of 9-11 weeks for the shortest-lived strain. Natural populations of N. furzeri display differences in life span, aging biomarkers, behavior, and color, which make N. furzeri a unique vertebrate system for studying the genetic basis of these traits. We mapped regions of the genome involved in sex determination and tail color by genotyping microsatellite markers in the F 2 progeny of a cross between a short-lived, yellow-tailed strain and a long-lived, red-tailed strain of N. furzeri. We identified one region linked with the yellow/red tail color that maps close to melanocortin 1 receptor (mc1r), a gene involved in pigmentation in several vertebrate species. Analysis of the segregation of sex-linked markers revealed that N. furzeri has a genetic sex determination system with males as the heterogametic sex and markedly reduced recombination in the male sex-determining region. Our results demonstrate that both naturally-evolved pigmentation differences and sex determination in N. furzeri are controlled by simple genetic mechanisms and set the stage for the molecular genetic dissection of factors underlying such traits. The microsatellite-based linkage map we developed for N. furzeri will also facilitate analysis of the genetic architecture of traits that characterize this group of vertebrates, including short life span and adaptation to extreme environmental conditions.

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Section: Resultsmentioning

confidence: 99%

Mapping Loci Associated With Tail Color and Sex Determination in the Short-Lived Fish Nothobranchius furzeri

Valenzano

Kirschner²,

Kamber

et al. 2009

Genetics

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“…The main function of melanin is considered to prevent skin damage by ultraviolet (UV) rays including in sunlight [1,2]. The excess accumulation of melanin or the absence of melanin production caused by aging, strass, and UV damages induces gray hairs, freckles, mottling, and senile lentigines [3]. Hence, regulating melanogenesis is desired to maintain the good health and cosmetic appearance of the human body.…”

Section: Melanin Biosynthesismentioning

confidence: 99%

Effect of quercetin derivatives on melanogenesis stimulation of melanoma cells

Mitsunaga

Yamauchi

2015

J Wood Sci

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Controlling melanogenesis is important for maintaining the good health and cosmetic appearance of a human body. This study aims to search the active compounds from natural products exhibiting the melanogenesis modulating activity and elucidate the mechanism underlying the observed activity. Two novel quercetin glycosideswere isolated and identified from Helminthostachys zeylanica roots 50 % ethanol extract. Compound 1 exhibited intracellular melanogenesis stimulatory activity, while 2 showed no effect even the structural similarity. To understand the structure-activity relationships, twelve quercetin glycosides and seven methylquercetins were synthesized from rutin as starting material. As the result of bioassay using synthesized nineteen quercetin derivatives in B16 melanoma cells, some quercetin-3-O-b-D-glucopyranosides stimulated the intracellular melanogenesis. On the other hand, synthesized 3-O-methylquercetin 12 and 3,4 0 ,7-Otrimethylquercetin 15 increased both intra and extracellular melanin contents with no cytotoxicity. Compoud 15 increased the phosphorylated p38 mitogen-activated protein kinase (MAPK) and microphthalmia-associated transcription factor (MITF) which regulates the expression of tyrosinase, TRP-1 and TRP-2. While 12 enhanced the expression of the melanogenic enzymes without involving the MITF, as evidenced by its lack of any stimulation of the expression of MITF and p-p38 MAPK. This result indicates that 12 may stimulate the expression of tyrosinase, TRP-1, and TRP-2 by stimulating currently unidentified transcriptional factors and/or by regulating the degradation of melanogenic enzymes.

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“…30,46,89 Cultura de ceratinócitos e melanócitos, de pele sã e com melasma e de populações não acometidas pela doença, sob diferentes regimes de exposição, permitiria um estudo comparativo da expressão de diversos genes para demonstrar as bases do comportamento fenotípico diferente desses grupos de células adjacentes, no mesmo tecido. 90,91 A experimentação clínica com proteínas AGOU-TI, em lesões de melasma, que competem com α-MSH, nos receptores de MC1-R, poderia gerar subsídios fisiopatológicos para a compreensão do papel do sistema α-MSH/MC1-R, na fisiopatogenia da doença. 79,92 Perfis de citocinas melanogênicas são expressas nas peles lesada e sã, assim como as células de origem, as decorrências locais e os estímulos desencadeantes permitiriam uma compreensão dos elementos, envolvidos na gênese do melasma.…”

Section: Considerações Finaisunclassified

Fisiopatologia do melasma

Miot¹,

Miot²,

Silva³

et al. 2009

An. Bras. Dermatol.

113

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Resumo: Melasma é uma dermatose comum que cursa com alteração da cor da pele normal, resultante da hiperatividade melanocítica focal epidérmica de clones de melanócitos hiperfuncionantes, com consequente hiperpigmentação melânica induzida, principalmente, pela radiação ultravioleta. Clinicamente, caracteriza-se por manchas acastanhadas, localizadas preferencialmente na face, embora possa acometer também região cervical, torácica anterior e membros superiores. Mulheres em período fértil e de fototipos intermediários representam as populações mais acometidas. Grande parte de sua fisiopatogenia permanece desconhecida, havendo relação com fatores genéticos, hormonais, uso de medicamentos, cosméticos, endocrinopatias e fotoexposição. Os autores discutem os principais elementos relacionados à pigmentação da pele e ao desenvolvimento do melasma. Palavras-chave: Melanose; Pigmentação da pele; Raios Ultravioleta; Transtornos da pigmentação Abstract: Melasma is a common dermatosis that involves changes in normal skin pigmentation, resulting from the hyperactivity of epidermal melanocytes. The consequent hyperpigmentation is mostly induced by ultraviolet radiation. Clinically, melasma is characterized by light to dark brown macules that usually occur on the face, although they can also affect the cervical and anterior thoracic regions and upper members. Fertile age women and those with intermediate skin phototypes are most likely to develop melasma. Most of its physiopathogenics is not yet fully understood, but there is a relation with genetic and hormonal factors, drugs and cosmetics use, endocrinopathies and sun exposure. The authors discuss the main aspects associated with skin pigmentation and the development of melasma.

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Genetics of Hair and Skin Color

Cited by 410 publications

References 108 publications

Mapping Loci Associated With Tail Color and Sex Determination in the Short-Lived Fish Nothobranchius furzeri

Mapping Loci Associated With Tail Color and Sex Determination in the Short-Lived Fish Nothobranchius furzeri

Effect of quercetin derivatives on melanogenesis stimulation of melanoma cells

Fisiopatologia do melasma

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