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Science ; 381(6658): eade6289, 2023 08 11.
Artículo en Inglés | MEDLINE | ID: mdl-37561850

RESUMEN

Skin color, one of the most diverse human traits, is determined by the quantity, type, and distribution of melanin. In this study, we leveraged the light-scattering properties of melanin to conduct a genome-wide screen for regulators of melanogenesis. We identified 169 functionally diverse genes that converge on melanosome biogenesis, endosomal transport, and gene regulation, of which 135 represented previously unknown associations with pigmentation. In agreement with their melanin-promoting function, the majority of screen hits were up-regulated in melanocytes from darkly pigmented individuals. We further unraveled functions of KLF6 as a transcription factor that regulates melanosome maturation and pigmentation in vivo, and of the endosomal trafficking protein COMMD3 in modulating melanosomal pH. Our study reveals a plethora of melanin-promoting genes, with broad implications for human variation, cell biology, and medicine.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Factor 6 Similar a Kruppel , Melaninas , Melanocitos , Melanosomas , Pigmentación de la Piel , Humanos , Melaninas/biosíntesis , Melaninas/genética , Melanocitos/metabolismo , Melanosomas/metabolismo , Pigmentación de la Piel/genética , Estudio de Asociación del Genoma Completo , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Factor 6 Similar a Kruppel/genética , Factor 6 Similar a Kruppel/metabolismo , Endosomas/metabolismo , Animales , Ratones , Línea Celular Tumoral
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