Association of melanogenesis genes with skin color variation among Japanese females

Abe, Yuko; Tamiya, Gen; Nakamura, Tomohiro; Hozumi, Yasukazu; Suzuki, Tamio

doi:10.1016/j.jdermsci.2012.10.016

Cited by 34 publications

(53 citation statements)

References 19 publications

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“…The R305W (rs1800401), R419Q (rs1800407), and V443I (rs121918166) coding polymorphisms are associated with eye colour [50,51] and R419Q is associated with increased BCC risk [43] . The A481T (rs74653330) and H615R (rs1800414) alleles are more common among Asian populations and associated with skin lightening [52] .…”

Section: Oca2: the Major Gene For Eye Colour And Albinism Type IImentioning

confidence: 99%

Skin Pigmentation Genetics for the Clinic

Ainger

Jagirdar²,

Lee³

et al. 2017

Dermatology

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Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin, hair and eyes. The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma. These same polymorphisms have been under selective pressure leading towards lighter pigmentation in Europeans in the last 5,000-20,000 years that have driven the increase in frequency in modern populations. Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily apparent for these major genes. However, predictive value and utility are increased when considering gene polymorphism interactions. In melanoma, an increased penetrance is found in cases when pigmentation gene risk alleles such as MC1R variants are coincident with mutation of higher-risk melanoma genes including CDKN2A, CDK4 and MITF E318K, demonstrating an interface between the pathways for pigmentation, naevogenesis and melanoma. The clinical phenotypes associated with germline changes in pigmentation and naevogenic genes must be understood by clinicians, and will be of increasing relevance to dermatologists, as genomics is incorporated into the delivery of personalised medicine.

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Section: Oca2: the Major Gene For Eye Colour And Albinism Type IImentioning

confidence: 99%

Skin Pigmentation Genetics for the Clinic

Ainger

Jagirdar²,

Lee³

et al. 2017

Dermatology

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“…The derived allele at rs1800414 was thought to contribute to the skin lightening in an association study of Han Chinese, which measured the skin color of individuals using the melanin index [47]. Another non-synonymous variant in OCA2 , rs74653330, has also been confirmed to be pigmentation-related in an association study of Japanese [48]. Additional examples of East Asian-specific pigmentation-associated alleles include rs10809814 in TYRP1 and rs1407995 in DCT [40, 49], both of which show differentiation between Asians and non-Asians [47], and strong signals of positive selections in Asians [43, 49].…”

Section: Introductionmentioning

confidence: 99%

Adaptation of human skin color in various populations

Deng

2017

Hereditas

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BackgroundSkin color is a well-recognized adaptive trait and has been studied extensively in humans. Understanding the genetic basis of adaptation of skin color in various populations has many implications in human evolution and medicine.DiscussionImpressive progress has been made recently to identify genes associated with skin color variation in a wide range of geographical and temporal populations. In this review, we discuss what is currently known about the genetics of skin color variation. We enumerated several cases of skin color adaptation in global modern humans and archaic hominins, and illustrated why, when, and how skin color adaptation occurred in different populations. Finally, we provided a summary of the candidate loci associated with pigmentation, which could be a valuable reference for further evolutionary and medical studies.ConclusionPrevious studies generally indicated a complex genetic mechanism underlying the skin color variation, expanding our understanding of the role of population demographic history and natural selection in shaping genetic and phenotypic diversity in humans. Future work is needed to dissect the genetic architecture of skin color adaptation in numerous ethnic minority groups around the world, which remains relatively obscure compared with that of major continental groups, and to unravel the exact genetic basis of skin color adaptation.

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“…Disruptions of the functions of several pigmentation-specific genes cause oculocutaneous albinism (OCA), which results in hypopigmentation of the skin, hair and eyes [1][2][3][4][5]. OCA1 (MIM 203100) and OCA3 (MIM 203290) have been associated with mutations in the genes encoding tyrosinase (TYR) and tyrosinaserelated protein (TYRP1), respectively [6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%