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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway</title><author><name sortKey="Praetorius, Christian" sort="Praetorius, Christian" uniqKey="Praetorius C" first="Christian" last="Praetorius">Christian Praetorius</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Grill, Christine" sort="Grill, Christine" uniqKey="Grill C" first="Christine" last="Grill">Christine Grill</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Stacey, Simon N" sort="Stacey, Simon N" uniqKey="Stacey S" first="Simon N." last="Stacey">Simon N. Stacey</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Metcalf, Alexander M" sort="Metcalf, Alexander M" uniqKey="Metcalf A" first="Alexander M." last="Metcalf">Alexander M. Metcalf</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Gorkin, David U" sort="Gorkin, David U" uniqKey="Gorkin D" first="David U." last="Gorkin">David U. Gorkin</name><affiliation><nlm:aff id="A4">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD 21205, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Robinson, Kathleen C" sort="Robinson, Kathleen C" uniqKey="Robinson K" first="Kathleen C." last="Robinson">Kathleen C. Robinson</name><affiliation><nlm:aff id="A6">Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Van Otterloo, Eric" sort="Van Otterloo, Eric" uniqKey="Van Otterloo E" first="Eric" last="Van Otterloo">Eric Van Otterloo</name><affiliation><nlm:aff id="A7">Anatomy and Cell Biology, University of Iowa, 357 Medical Research Center, Iowa City, IA 52242-1101, USA</nlm:aff></affiliation></author><author><name sortKey="Kim, Reuben S Q" sort="Kim, Reuben S Q" uniqKey="Kim R" first="Reuben S. Q." last="Kim">Reuben S. Q. Kim</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A8">The School of Biomedical Sciences, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Bergsteinsdottir, Kristin" sort="Bergsteinsdottir, Kristin" uniqKey="Bergsteinsdottir K" first="Kristin" last="Bergsteinsdottir">Kristin Bergsteinsdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Ogmundsdottir, Margret H" sort="Ogmundsdottir, Margret H" uniqKey="Ogmundsdottir M" first="Margret H." last="Ogmundsdottir">Margret H. Ogmundsdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Magnusdottir, Erna" sort="Magnusdottir, Erna" uniqKey="Magnusdottir E" first="Erna" last="Magnusdottir">Erna Magnusdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Mishra, Pravin J" sort="Mishra, Pravin J" uniqKey="Mishra P" first="Pravin J." last="Mishra">Pravin J. Mishra</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Davis, Sean R" sort="Davis, Sean R" uniqKey="Davis S" first="Sean R." last="Davis">Sean R. Davis</name><affiliation><nlm:aff id="A10">Genetics Branch, National Cancer Institute, Bldg 37, Room 6138, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Guo, Theresa" sort="Guo, Theresa" uniqKey="Guo T" first="Theresa" last="Guo">Theresa Guo</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Zaidi, M Raza" sort="Zaidi, M Raza" uniqKey="Zaidi M" first="M. Raza" last="Zaidi">M. Raza Zaidi</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Helgason, Agnar S" sort="Helgason, Agnar S" uniqKey="Helgason A" first="Agnar S." last="Helgason">Agnar S. Helgason</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Sigurdsson, Martin I" sort="Sigurdsson, Martin I" uniqKey="Sigurdsson M" first="Martin I." last="Sigurdsson">Martin I. Sigurdsson</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Melzer, Paul S" sort="Melzer, Paul S" uniqKey="Melzer P" first="Paul S." last="Melzer">Paul S. Melzer</name><affiliation><nlm:aff id="A10">Genetics Branch, National Cancer Institute, Bldg 37, Room 6138, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Merlino, Glenn" sort="Merlino, Glenn" uniqKey="Merlino G" first="Glenn" last="Merlino">Glenn Merlino</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Petit, Valerie" sort="Petit, Valerie" uniqKey="Petit V" first="Valerie" last="Petit">Valerie Petit</name><affiliation><nlm:aff id="A11">Institut Curie, Centre de Recherche, Developmental Genetics of Melanocytes, Orsay, 91405, France</nlm:aff></affiliation></author><author><name sortKey="Larue, Lionel" sort="Larue, Lionel" uniqKey="Larue L" first="Lionel" last="Larue">Lionel Larue</name><affiliation><nlm:aff id="A11">Institut Curie, Centre de Recherche, Developmental Genetics of Melanocytes, Orsay, 91405, France</nlm:aff></affiliation></author><author><name sortKey="Loftus, Stacie K" sort="Loftus, Stacie K" uniqKey="Loftus S" first="Stacie K." last="Loftus">Stacie K. Loftus</name><affiliation><nlm:aff id="A12">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Adams, David R" sort="Adams, David R" uniqKey="Adams D" first="David R." last="Adams">David R. Adams</name><affiliation><nlm:aff id="A13">Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Sobhiafshar, Ulduz" sort="Sobhiafshar, Ulduz" uniqKey="Sobhiafshar U" first="Ulduz" last="Sobhiafshar">Ulduz Sobhiafshar</name><affiliation><nlm:aff id="A14">Laboratory of Genome Regulation, Department of Molecular Biology and Genetics, BoğaziçI University, Bebek 34342, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Emre, N C Tolga" sort="Emre, N C Tolga" uniqKey="Emre N" first="N. C. Tolga" last="Emre">N. C. Tolga Emre</name><affiliation><nlm:aff id="A14">Laboratory of Genome Regulation, Department of Molecular Biology and Genetics, BoğaziçI University, Bebek 34342, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Pavan, William J" sort="Pavan, William J" uniqKey="Pavan W" first="William J." last="Pavan">William J. Pavan</name><affiliation><nlm:aff id="A12">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Cornell, Robert" sort="Cornell, Robert" uniqKey="Cornell R" first="Robert" last="Cornell">Robert Cornell</name><affiliation><nlm:aff id="A7">Anatomy and Cell Biology, University of Iowa, 357 Medical Research Center, Iowa City, IA 52242-1101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Aaron G" sort="Smith, Aaron G" uniqKey="Smith A" first="Aaron G." last="Smith">Aaron G. Smith</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A8">The School of Biomedical Sciences, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Mccallion, Andrew S" sort="Mccallion, Andrew S" uniqKey="Mccallion A" first="Andrew S." last="Mccallion">Andrew S. Mccallion</name><affiliation><nlm:aff id="A4">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Fisher, David E" sort="Fisher, David E" uniqKey="Fisher D" first="David E." last="Fisher">David E. Fisher</name><affiliation><nlm:aff id="A6">Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Stefansson, Kari" sort="Stefansson, Kari" uniqKey="Stefansson K" first="Kari" last="Stefansson">Kari Stefansson</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Sturm, Richard A" sort="Sturm, Richard A" uniqKey="Sturm R" first="Richard A." last="Sturm">Richard A. Sturm</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Steingrimsson, Eirikur" sort="Steingrimsson, Eirikur" uniqKey="Steingrimsson E" first="Eiríkur" last="Steingrímsson">Eiríkur Steingrímsson</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24267888</idno><idno type="pmc">3873608</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873608</idno><idno type="RBID">PMC:3873608</idno><idno type="doi">10.1016/j.cell.2013.10.022</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001D44</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001D44</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway</title><author><name sortKey="Praetorius, Christian" sort="Praetorius, Christian" uniqKey="Praetorius C" first="Christian" last="Praetorius">Christian Praetorius</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Grill, Christine" sort="Grill, Christine" uniqKey="Grill C" first="Christine" last="Grill">Christine Grill</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Stacey, Simon N" sort="Stacey, Simon N" uniqKey="Stacey S" first="Simon N." last="Stacey">Simon N. Stacey</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Metcalf, Alexander M" sort="Metcalf, Alexander M" uniqKey="Metcalf A" first="Alexander M." last="Metcalf">Alexander M. Metcalf</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Gorkin, David U" sort="Gorkin, David U" uniqKey="Gorkin D" first="David U." last="Gorkin">David U. Gorkin</name><affiliation><nlm:aff id="A4">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD 21205, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Robinson, Kathleen C" sort="Robinson, Kathleen C" uniqKey="Robinson K" first="Kathleen C." last="Robinson">Kathleen C. Robinson</name><affiliation><nlm:aff id="A6">Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Van Otterloo, Eric" sort="Van Otterloo, Eric" uniqKey="Van Otterloo E" first="Eric" last="Van Otterloo">Eric Van Otterloo</name><affiliation><nlm:aff id="A7">Anatomy and Cell Biology, University of Iowa, 357 Medical Research Center, Iowa City, IA 52242-1101, USA</nlm:aff></affiliation></author><author><name sortKey="Kim, Reuben S Q" sort="Kim, Reuben S Q" uniqKey="Kim R" first="Reuben S. Q." last="Kim">Reuben S. Q. Kim</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A8">The School of Biomedical Sciences, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Bergsteinsdottir, Kristin" sort="Bergsteinsdottir, Kristin" uniqKey="Bergsteinsdottir K" first="Kristin" last="Bergsteinsdottir">Kristin Bergsteinsdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Ogmundsdottir, Margret H" sort="Ogmundsdottir, Margret H" uniqKey="Ogmundsdottir M" first="Margret H." last="Ogmundsdottir">Margret H. Ogmundsdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Magnusdottir, Erna" sort="Magnusdottir, Erna" uniqKey="Magnusdottir E" first="Erna" last="Magnusdottir">Erna Magnusdottir</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Mishra, Pravin J" sort="Mishra, Pravin J" uniqKey="Mishra P" first="Pravin J." last="Mishra">Pravin J. Mishra</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Davis, Sean R" sort="Davis, Sean R" uniqKey="Davis S" first="Sean R." last="Davis">Sean R. Davis</name><affiliation><nlm:aff id="A10">Genetics Branch, National Cancer Institute, Bldg 37, Room 6138, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Guo, Theresa" sort="Guo, Theresa" uniqKey="Guo T" first="Theresa" last="Guo">Theresa Guo</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Zaidi, M Raza" sort="Zaidi, M Raza" uniqKey="Zaidi M" first="M. Raza" last="Zaidi">M. Raza Zaidi</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Helgason, Agnar S" sort="Helgason, Agnar S" uniqKey="Helgason A" first="Agnar S." last="Helgason">Agnar S. Helgason</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Sigurdsson, Martin I" sort="Sigurdsson, Martin I" uniqKey="Sigurdsson M" first="Martin I." last="Sigurdsson">Martin I. Sigurdsson</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Melzer, Paul S" sort="Melzer, Paul S" uniqKey="Melzer P" first="Paul S." last="Melzer">Paul S. Melzer</name><affiliation><nlm:aff id="A10">Genetics Branch, National Cancer Institute, Bldg 37, Room 6138, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Merlino, Glenn" sort="Merlino, Glenn" uniqKey="Merlino G" first="Glenn" last="Merlino">Glenn Merlino</name><affiliation><nlm:aff id="A9">Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Petit, Valerie" sort="Petit, Valerie" uniqKey="Petit V" first="Valerie" last="Petit">Valerie Petit</name><affiliation><nlm:aff id="A11">Institut Curie, Centre de Recherche, Developmental Genetics of Melanocytes, Orsay, 91405, France</nlm:aff></affiliation></author><author><name sortKey="Larue, Lionel" sort="Larue, Lionel" uniqKey="Larue L" first="Lionel" last="Larue">Lionel Larue</name><affiliation><nlm:aff id="A11">Institut Curie, Centre de Recherche, Developmental Genetics of Melanocytes, Orsay, 91405, France</nlm:aff></affiliation></author><author><name sortKey="Loftus, Stacie K" sort="Loftus, Stacie K" uniqKey="Loftus S" first="Stacie K." last="Loftus">Stacie K. Loftus</name><affiliation><nlm:aff id="A12">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Adams, David R" sort="Adams, David R" uniqKey="Adams D" first="David R." last="Adams">David R. Adams</name><affiliation><nlm:aff id="A13">Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Sobhiafshar, Ulduz" sort="Sobhiafshar, Ulduz" uniqKey="Sobhiafshar U" first="Ulduz" last="Sobhiafshar">Ulduz Sobhiafshar</name><affiliation><nlm:aff id="A14">Laboratory of Genome Regulation, Department of Molecular Biology and Genetics, BoğaziçI University, Bebek 34342, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Emre, N C Tolga" sort="Emre, N C Tolga" uniqKey="Emre N" first="N. C. Tolga" last="Emre">N. C. Tolga Emre</name><affiliation><nlm:aff id="A14">Laboratory of Genome Regulation, Department of Molecular Biology and Genetics, BoğaziçI University, Bebek 34342, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Pavan, William J" sort="Pavan, William J" uniqKey="Pavan W" first="William J." last="Pavan">William J. Pavan</name><affiliation><nlm:aff id="A12">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Cornell, Robert" sort="Cornell, Robert" uniqKey="Cornell R" first="Robert" last="Cornell">Robert Cornell</name><affiliation><nlm:aff id="A7">Anatomy and Cell Biology, University of Iowa, 357 Medical Research Center, Iowa City, IA 52242-1101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Aaron G" sort="Smith, Aaron G" uniqKey="Smith A" first="Aaron G." last="Smith">Aaron G. Smith</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A8">The School of Biomedical Sciences, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Mccallion, Andrew S" sort="Mccallion, Andrew S" uniqKey="Mccallion A" first="Andrew S." last="Mccallion">Andrew S. Mccallion</name><affiliation><nlm:aff id="A4">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Fisher, David E" sort="Fisher, David E" uniqKey="Fisher D" first="David E." last="Fisher">David E. Fisher</name><affiliation><nlm:aff id="A6">Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Stefansson, Kari" sort="Stefansson, Kari" uniqKey="Stefansson K" first="Kari" last="Stefansson">Kari Stefansson</name><affiliation><nlm:aff id="A2">Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Sturm, Richard A" sort="Sturm, Richard A" uniqKey="Sturm R" first="Richard A." last="Sturm">Richard A. Sturm</name><affiliation><nlm:aff id="A3">Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Steingrimsson, Eirikur" sort="Steingrimsson, Eirikur" uniqKey="Steingrimsson E" first="Eiríkur" last="Steingrímsson">Eiríkur Steingrímsson</name><affiliation><nlm:aff id="A1">Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</nlm:aff></affiliation></author></analytic><series><title level="j">Cell</title><idno type="ISSN">0092-8674</idno><idno type="eISSN">1097-4172</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">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 melanocyte biology, is strongly associated with sensitivity of skin to sun exposure, freckles, blue eyes and brown hair color. Here we demonstrate that this SNP lies within an enhancer of IRF4 transcription in melanocytes. The allele associated with this pigmentation phenotype impairs binding of the TFAP2A transcription factor which together with the melanocyte master regulator MITF, regulates activity of the enhancer. Assays in zebrafish and mice reveal that IRF4 cooperates with MITF to activate expression of Tyrosinase (TYR), an essential enzyme in melanin synthesis. Our findings provide a clear example of a non-coding polymorphism that affects a phenotype by modulating a developmental gene regulatory network.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0413066</journal-id><journal-id journal-id-type="pubmed-jr-id">2830</journal-id><journal-id journal-id-type="nlm-ta">Cell</journal-id><journal-id journal-id-type="iso-abbrev">Cell</journal-id><journal-title-group><journal-title>Cell</journal-title></journal-title-group><issn pub-type="ppub">0092-8674</issn><issn pub-type="epub">1097-4172</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24267888</article-id><article-id pub-id-type="pmc">3873608</article-id><article-id pub-id-type="doi">10.1016/j.cell.2013.10.022</article-id><article-id pub-id-type="manuscript">NIHMS533849</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Praetorius</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Grill</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Stacey</surname><given-names>Simon N.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Metcalf</surname><given-names>Alexander M.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gorkin</surname><given-names>David U.</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Kathleen C.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Van Otterloo</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Reuben S.Q.</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Bergsteinsdottir</surname><given-names>Kristin</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ogmundsdottir</surname><given-names>Margret H.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Magnusdottir</surname><given-names>Erna</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mishra</surname><given-names>Pravin J.</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Davis</surname><given-names>Sean R.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Guo</surname><given-names>Theresa</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Zaidi</surname><given-names>M. Raza</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Helgason</surname><given-names>Agnar S.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Sigurdsson</surname><given-names>Martin I.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Melzer</surname><given-names>Paul S.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Merlino</surname><given-names>Glenn</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Petit</surname><given-names>Valerie</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Larue</surname><given-names>Lionel</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Loftus</surname><given-names>Stacie K.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Adams</surname><given-names>David R.</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Sobhiafshar</surname><given-names>Ulduz</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Emre</surname><given-names>N. C. Tolga</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Pavan</surname><given-names>William J.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Cornell</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Aaron G.</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>McCallion</surname><given-names>Andrew S.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Fisher</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Stefansson</surname><given-names>Kari</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Sturm</surname><given-names>Richard A.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Steingrímsson</surname><given-names>Eiríkur</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland</aff><aff id="A2"><label>2</label>Decode Genetics, Sturlugata 8, 101 Reykjavik, Iceland</aff><aff id="A3"><label>3</label>Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia</aff><aff id="A4"><label>4</label>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD 21205, USA</aff><aff id="A5"><label>5</label>Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA</aff><aff id="A6"><label>6</label>Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA</aff><aff id="A7"><label>7</label>Anatomy and Cell Biology, University of Iowa, 357 Medical Research Center, Iowa City, IA 52242-1101, USA</aff><aff id="A8"><label>8</label>The School of Biomedical Sciences, University of Queensland, Brisbane, Qld 4072, Australia</aff><aff id="A9"><label>9</label>Laboratory of Cancer Biology and Genetics, National Cancer Institute, Bldg 37, Room 5002, 37 Convent Drive, Bethesda, MD 20892, USA</aff><aff id="A10"><label>10</label>Genetics Branch, National Cancer Institute, Bldg 37, Room 6138, 37 Convent Drive, Bethesda, MD 20892, USA</aff><aff id="A11"><label>11</label>Institut Curie, Centre de Recherche, Developmental Genetics of Melanocytes, Orsay, 91405, France</aff><aff id="A12"><label>12</label>Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</aff><aff id="A13"><label>13</label>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</aff><aff id="A14"><label>14</label>Laboratory of Genome Regulation, Department of Molecular Biology and Genetics, BoğaziçI University, Bebek 34342, Istanbul, Turkey</aff><author-notes><corresp id="cor1"><label>*</label>Corresponding author: Eiríkur Steingrímsson, Tel +354 525 4270, <email>eirikurs@hi.is</email></corresp><fn id="FN1" fn-type="equal"><label>#</label><p id="P1">Equal contribution.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>16</day><month>12</month><year>2013</year></pub-date><pub-date pub-type="ppub"><day>21</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>21</day><month>11</month><year>2014</year></pub-date><volume>155</volume><issue>5</issue><elocation-id>10.1016/j.cell.2013.10.022</elocation-id><abstract><p id="P2">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 melanocyte biology, is strongly associated with sensitivity of skin to sun exposure, freckles, blue eyes and brown hair color. Here we demonstrate that this SNP lies within an enhancer of IRF4 transcription in melanocytes. The allele associated with this pigmentation phenotype impairs binding of the TFAP2A transcription factor which together with the melanocyte master regulator MITF, regulates activity of the enhancer. Assays in zebrafish and mice reveal that IRF4 cooperates with MITF to activate expression of Tyrosinase (TYR), an essential enzyme in melanin synthesis. Our findings provide a clear example of a non-coding polymorphism that affects a phenotype by modulating a developmental gene regulatory network.</p></abstract><funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS062972 || NS</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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