A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

Sequence polymorphisms linked to human diseases and phenotypes in genome-wide association studies often affect non-coding regions. A single nucleotide polymorphism (SNP) within an intron of the gene encoding Interferon Regulatory Factor 4 (IRF4), a transcription factor with no known role in melanocy...

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Main Authors: 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., Melzer, 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., Steingrímsson, Eiríkur
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873608/
https://ncbi.nlm.nih.gov/pubmed/24267888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2013.10.022
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