What question did this study set out to answer?

To review the genetic determinants of human skin and hair color variation, with an emphasis on MC1R genotype-phenotype relationships and phenotypic measurement challenges.

December 1, 2003Annual Review of Genetics

Genetics of Hair and Skin Color

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Authors

JRJonathan L. ReesUniversity of Oxford

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Implication

Narrative review reveals the genetic regulation of human pigmentation by MC1R, indicating that standardized phenotypic assessment is essential to advance pigmentary genetics.

Key Points

To review the genetic determinants of human skin and hair color variation, with an emphasis on MC1R genotype-phenotype relationships and phenotypic measurement challenges.
Synthesized findings on genetic mutations causing rare Mendelian pigmentary disorders and typical population variation.
Evaluated genotype-phenotype correlations for the melanocortin 1 receptor (MC1R) alongside methods for evaluating human pigmentary status.
Skin and hair color variation is primarily driven by the synthesis of melanin in melanocytes and its packaging into keratinocytes.
MC1R is identified as the primary gene governing common pigmentary variations, including red hair, freckling, and sun-sensitivity.
Technological progress in genotyping has outpaced phenotypic classification, making non-standardized phenotype assessment the primary bottleneck in pigmentary research.

Cite This Study

Jonathan L. Rees (2003) studied this question.

synapsesocial.com/papers/69d8d160d2f7327e70ae462a https://doi.org/10.1146/annurev.genet.37.110801.143233

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Implication

Narrative review reveals the genetic regulation of human pigmentation by MC1R, indicating that standardized phenotypic assessment is essential to advance pigmentary genetics.

Genetics of Hair and Skin Color

Discussion

Member takes

Implication

Key Points

Cite This Study

Genetics of Hair and Skin Color

Discussion

Member takes

Implication

Key Points

Cite This Study

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