Yuanqing Feng, Ning Xie, Fumitaka Inoue, Shaohua Fan, Joshua Saskin, Chao Zhang, Fang Zhang, Matthew E B Hansen, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Charles Fokunang, Gurja Belay, Alfred K Njamnshi, Michael S Marks, Elena Oancea, Nadav Ahituv, Sarah A Tishkoff
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 regulatory elements for MFSD12, HMG20B, OCA2, MITF, LEF1, TRPS1, BLOC1S6 and CYB561A3 that impact melanin levels in vitro and modulate human skin color...
January 10, 2024: Nature Genetics