Article
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
Nature genetics - 1 Feb 2024
Feng Yuanqing, Xie Ning, Inoue Fumitaka, Fan Shaohua, Saskin Joshua, Zhang Chao, Zhang Fang, Hansen Matthew E B, Nyambo Thomas, Mpoloka Sununguko Wata, Mokone Gaonyadiwe George, Fokunang Charles, Belay Gurja, Njamnshi Alfred K, Marks Michael S, Oancea Elena, Ahituv Nadav, Tishkoff Sarah A
Abstract excerpt
Skin color is highly variable in Africans, yet little is known about the underlying molecular mechanism. Here we applied massively parallel reporter assays to screen 1,157 candidate variants influencing skin pigmentation in Africans and identified 165 single-nucleotide polymorphisms showing differential regulatory activities between alleles. We combine Hi-C, genome editing and melanin assays to identify...
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