Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications

    Denisse Stephania Becerra‐Loaiza, Nayeli González-Ortiz, Daniel Sat-Muñoz, Luz María Adriana Balderas-Peña, José Alonso Aguilar‐Velázquez
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    TLDR Human pigmentation is influenced by many genetic and environmental factors, affecting traits like skin, hair, and eye color, with implications for health and forensic applications.
    This review delves into the intricate molecular mechanisms, genetic architecture, and evolutionary aspects of human pigmentation, highlighting the interplay between genetic and environmental factors. It emphasizes the polygenic nature of pigmentation, with numerous genetic variants influencing traits like skin, hair, and eye color. The review discusses the role of pigmentation in adaptive evolution and its applications in forensic DNA phenotyping, noting the probabilistic nature of genotype-phenotype relationships. Health implications, such as UVR response and cancer susceptibility, are explored, with a call for comprehensive datasets and responsible governance in forensic and health applications. Despite advancements, challenges remain in translating pigmentation research into practical applications due to genetic complexity and population diversity.
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