Spectrum of Phenotypes Associated with Human MC1R Variations

    June 2025 in “ Albus Scientia ”
    Razeen Tariq, Seher, Warda Safdar, Haleema Zaheer, Aiman Yousuf, Arshad Ali
    TLDR MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
    The melanocortin 1 receptor (MC1R) gene significantly influences human pigmentation, affecting skin, eye, and hair color by regulating pheomelanin and eumelanin production. Variants of the MC1R gene are linked to phenotypes such as red hair, light skin, and increased UV sensitivity, and are associated with conditions like albinism and melanoma. Specific red hair color (RHC) variants, such as p.V60L and p.R151C, are prevalent in individuals with fair skin and red hair. MC1R variants also impact DNA repair mechanisms, heightening melanoma risk. Additionally, MC1R serves as a genetic marker in forensic science for predicting phenotypic traits like hair and skin color, aiding in suspect profiling. This review delves into the molecular mechanisms, signaling pathways, and phenotypic diversity related to MC1R genetic variations.
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