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. Author manuscript; available in PMC: 2024 Mar 2.
Published in final edited form as: Cell. 2023 Mar 2;186(5):923–939.e14. doi: 10.1016/j.cell.2023.01.042

Figure 7. rs77665059 affects the enhancer activity of PDPK1 and may contribute to light skin color of the San.

Figure 7.

(A) rs77665059 overlaps a melanocyte-specific open chromatin region in the intron of PDPK1.

(B) Allele frequency of rs77665059 in 12 African populations. C is the ancestral allele, highlighted in green.

(C)Luciferase reporter assay of rs77665059 in MNT-1 and WM88 melanoma cells. N=10–12.

(D) rs77665059 is an eQTL of PDPK1 in cultured fibroblast cells. Data from GTEx.

(E) CRISPRi of the enhancer inhibits PDPK1 gene expression.

(F) CRISPRi of the PDPK1 enhancer decreases the melanin level in MNT-1 cells.

(G)Melanin index for different genotypes of rs77665059 in the San. One-way ANOVA with pos hoc tests were used in C, E, and F. **** indicates p < 0.0001, *** indicates p < 0.001.