Article
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
Cell - 21 Nov 2013
Praetorius Christian, Grill Christine, Stacey Simon N, Metcalf Alexander M, Gorkin David U, Robinson Kathleen C, Van Otterloo Eric, Kim Reuben S Q, Bergsteinsdottir Kristin, Ogmundsdottir Margret H, Magnusdottir Erna, Mishra Pravin J, Davis Sean R, Guo Theresa, Zaidi M Raza, Helgason Agnar S, Sigurdsson Martin I, Meltzer Paul S, Merlino Glenn, Petit Valerie, Larue Lionel, Loftus Stacie K, Adams David R, Sobhiafshar Ulduz, Emre N C Tolga, Pavan William J, Cornell Robert, Smith Aaron G, McCallion Andrew S, Fisher David E, Stefansson Kari, Sturm Richard A, Steingrimsson Eirikur
Abstract excerpt
Sequence polymorphisms linked to human diseases and phenotypes in genome-wide association studies often affect noncoding regions. A SNP within an intron of the gene encoding Interferon Regulatory Factor 4 (IRF4), a transcription factor with no known role in melanocyte biology, is strongly associated with sensitivity of skin to sun exposure, freckles, blue eyes, and brown hair color. Here, we demonstrate that this...
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