Interferon regulatory factor 4 (IRF4) had been associated with human pigmentation but, until now, had no known role in melanocyte pigmentation. The authors examined a single-nucleotide polymorphism in an intron of IRF4 from a previous genome-wide association study and found that the associated allele impairs binding by transcription factor AP-2α (TFAP2A) and microphthalmia-associated transcription factor (MITF). In addition, cooperation of MITF, TFAP2A and IRF4 was found to be required for activation of the pigmentation enzyme tyrosinase.
References
Praetorius, C. et al. A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell 155, 1022–1033 (2013)
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Lokody, I. Non-coding polymorphism in IRF4 reveals function. Nat Rev Genet 15, 5 (2014). https://doi.org/10.1038/nrg3654
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DOI: https://doi.org/10.1038/nrg3654
