Cited by 228melanin and skin pigmentationMelanoma and MAPK PathwaysGenetic Associations and Epidemiology

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A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

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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·2013·Cell

DOI 10.1016/j.cell.2013.10.022PMC PMC3873608

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Abstract

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 SNP lies within an enhancer of IRF4 transcription in melanocytes. The allele associated with this pigmentation phenotype impairs binding of the TFAP2A transcription factor that, 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 noncoding polymorphism that affects a phenotype by modulating a developmental gene regulatory network.

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Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
Mobuchon, L., Derrien, A., Houy, A., Verrier, T., Pierron, G., Cassoux, N., Milder, M., Deleuze, J., Boland, A., Scélo, G., et al. (2021) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djab167 · Cited by 20
“TFAP2a recognizes rs12203592 C allele in melanocytes, allowing the recruitment of MITF, YY1, and potentially LEF1 and increasing IRF4 expression (15,16).”
Background
Pulmonary expression of CYP2A13 and ABCB1 is regulated by FOXA2, and their genetic interaction is associated with lung cancer
Xiang, C., Wang, J., Kou, X., Chen, X., Qin, Z., Jiang, Y., Sun, C., Xu, J., Tan, W., Li, J., et al. (2015) · The FASEB Journal · doi:10.1096/fj.14-264580 · Cited by 20
“ChIP was carried out by using 5 mg ChIP grade antibody against FOXA2 or GATA6 or nonrelated IgG (AF2400, AF1700, and AB-108-C; R&D Systems, Minneapolis, MN, USA) according to the previously described methods with minor modifications (23).”
Method
Personalized skincare: from molecular basis to clinical and commercial applications
Markiewicz, E., & Idowu, O. C. (2018) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s163799 · Cited by 22
The distinct morphological phenotypes of Southeast Asian aborigines are shaped by novel mechanisms for adaptation to tropical rainforests
Zhang, X., Liu, Q., Zhang, H., Zhao, S., Huang, J., Sovannary, T., Bunnath, L., Aun, H. S., Samnom, H., Su, B., et al. (2021) · National Science Review · doi:10.1093/nsr/nwab072 · Cited by 19
Irradiation-induced hair graying in mice: an experimental model to evaluate the effectiveness of interventions targeting oxidative stress, DNA damage prevention, and cellular senescence
Ungvari, A., Kiss, T., Gulej, R., Tarantini, S., Csík, B., Yabluchanskiy, A., Mukli, P., Csiszár, A., Harris, M. L., & Ungvari, Z. I. (2024) · GeroScience · doi:10.1007/s11357-023-01042-7 · Cited by 21
“The rs12203592 SNP is also associated with lighter hair color in humans and conditional knockout of Irf4 in the melanocyte lineage in mice results in notably lighter coat color [71, 72].”
Background
IRF4 rs12203592 functional variant and melanoma survival
Potrony, M., Rebollo‐Morell, A., Giménez‐Xavier, P., Zimmer, L., Puig‐Butillé, J. A., Tell‐Martí, G., Sucker, A., Bádenas, C., Carrera, C., Malvehy, J., et al. (2017) · International Journal of Cancer · doi:10.1002/ijc.30605 · Cited by 18
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Thouenon, R., Chentout, L., Moreno-Corona, N. C., Poggi, L., Lombardi, E. P., Hoareau‐Coudert, B., Schmitt, Y., Lagresle‐Peyrou, C., Bustamante, J. C., André‐Schmutz, I., et al. (2023) · The Journal of Experimental Medicine · doi:10.1084/jem.20221292 · Cited by 17
Genetics of hair graying with age
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Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways
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“Due to the strong magnitude of association between variants in IRF4 and both hair loss and pigmentation, it is dif ﬁ cult to determine the type of genetic pleiotropy (vertical or horizontal) exerted by this variant on MPB and skin cancers (i.e. whether the association between IRF4 on skin cancers were through change i…”
Influential
Characterization of the biological processes shaping the genetic structure of the Italian population
Parolo, S., Lisa, A., Gentilini, D., Blasio, A. M. D., Barlera, S., Nicolis, E., Boncoraglio, G. B., Parati, E. A., & Bione, S. (2015) · BMC Genetics · doi:10.1186/s12863-015-0293-x · Cited by 17
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“Interestingly, many of the polymorphisms identified through genome-wide association studies (GWAS) are found in noncoding regions, which often play a crucial role in the development of human diseases [31].”
GBS Data Identify Pigmentation-Specific Genes of Potential Role in Skin-Photosensitization in Two Tunisian Sheep Breeds
Baazaoui, I., McEwan, J. C., Anderson, R. M., Bräuning, R., McCulloch, A., van Stijn, T. C., & Bedhiaf‐Romdhani, S. (2019) · Animals · doi:10.3390/ani10010005 · Cited by 15
Genome-Wide Association Study Identifies Loci Associated with Sensitive Skin
Farage, M. A., Jiang, Y., Tiesman, J. P., Fontanillas, P., & Osborne, R. (2020) · Cosmetics · doi:10.3390/cosmetics7020049 · Cited by 15
MITF Regulates Downstream Genes in Response to Vibrio parahaemolyticus Infection in the Clam Meretrix Petechialis
Zhang, S., Yue, X., Yu, J., Wang, H., & Liu, B. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.01547 · Cited by 15
“Similarly, other studies have also indicated that overexpression of MITF could activate the expression of CTSK and PO (35, 36).”
Result
Genes Determining Nevus Count and Dermoscopic Appearance in Australian Melanoma Cases and Controls
Duffy, D. L., Jagirdar, K., Lee, K., McWhirter, S. R., McMeniman, E., De’Ambrosis, B., Pflugfelder, A., Rayner, J. E., Whiteman, D. C., Brown, M. A., et al. (2019) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2019.05.032 · Cited by 15
IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon
Asgari, M. M., Toland, A. E., & Arron, S. T. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.07.038 · Cited by 14
“IRF4 is involved in activation of melanin synthesis via tyrosinase. rs12203592 falls within an enhancer region of IRF4; the T allele impairs transcription factor binding, leading to reduced expression of IRF4 and tyrosinase (Praetorius et al., 2013).”
Association Between Premature Hair Greying and Metabolic Risk Factors: A Cross-sectional Study
Paik, S., Jang, S., Joh, H., Lim, C. S., Cho, B., Kwon, O., & Jo, S. J. (2018) · Acta Dermato Venereologica · doi:10.2340/00015555-2974 · Cited by 14
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Dellac, S., Ben‐Dov, H., Raanan, A., Saleem, H., Zamostiano, R., Semyatich, R., Lavi, S., Witz, I. P., Bacharach, E., & Ehrlich, M. (2020) · International Journal of Cancer · doi:10.1002/ijc.33401 · Cited by 12
Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress
Markiewicz, E., & Idowu, O. C. (2022) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s383790 · Cited by 12
“Within the melanogenic genes cluster, several, including ASIP, ATRN, IRF4 and MITF are directly involved in cellular responses to UVR, sun sensitivity, DNA repair and inflammation.(12,39,45,47) The genes, except for SLC4A5 and KITGL, are predominantly affected by the SNPs in the European and Asian skin.”
Background
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus
Loftus, S. K., Lundh, L., Watkins‐Chow, D. E., Baxter, L. L., Pairo‐Castineira, E., Program, N. C. S., Jackson, I. J., Oetting, W. S., Pavan, W. J., & Adams, D. R. (2021) · Human Mutation · doi:10.1002/humu.24257 · Cited by 12
Sequential transcriptional waves and NF-κB-driven chromatin remodeling direct drug-induced dedifferentiation in cancerPreprint
Su, Y., Liu, C., Lu, X., Li, G., Shao, S., Kong, Y., Lee, J. W., Ng, R. H., Wong, S. K., Robert, L., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/724740 · Cited by 12
Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma
Ingold, N., Seviiri, M., Ong, J., Neale, R. Ε., Pandeya, N., Whiteman, D. C., Olsen, C. M., Martin, N. G., Duffy, D. L., Khosrotehrani, K., et al. (2024) · JAMA Dermatology · doi:10.1001/jamadermatol.2024.2601 · Cited by 13
OPN3 Regulates Melanogenesis in Human Congenital Melanocytic Nevus Cells through Functional Interaction with BRAFV600E
Dong, X., Zeng, W., Zhang, W., Lan, Y., Wang, Y., Feng, J., Gu, L., & Lü, H. (2022) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2022.04.022 · Cited by 11
Investigation of Morinda citrifolia Activities through Pinoresinol and α-EG Related Gene Expression
Sudmoon, R., Kaewdaungdee, S., Ameamsri, U., Tanee, T., Siripiyasing, P., Wonok, W., & Chaveerach, A. (2022) · Plants · doi:10.3390/plants11151985 · Cited by 11
“The primer sequences were (5′→3′) COL1A1 F-AGCCTCTCCATCTTTGCCAGCA and RGATTCCCTGGACCTAAAGGTGC [22], COL1A2 F-CCTGGTGCTAAAGGAGAAAGAGG and R-ATCACCACGACTTCCAGCAGGA [22], COL3A1 F-TGGTCTGGAAGGAATGCCTGGA and R-TCTTCCCTGGGACACCATCAG [22], FGF1 F-ATGGCACAGGTGGATGGGACAAG and R-TAAAAGCCCGTCGGTGTCCATG [22], FGF7 F-CTGTCGAACACA…”
Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck
Wood, R. P., Heyworth, J. S., McCarthy, N. S., Mauguen, A., Berwick, M., Thomas, N. E., Millward, M., Anton‐Culver, H., Cust, A. E., Dwyer, T., et al. (2020) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-20-0595 · Cited by 11
Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation
Huang, X., Wang, S., Li, J., & He, Y. (2021) · Biology Open · doi:10.1242/bio.056523 · Cited by 12
“…et al., 2009; Edwards et al., 2010; Branicki et al., 2011; Donnelly et al., 2012; Visser et al., 2012; Hart et al., 2013; Jacobs et al., 2013; Praetorius et al., 2013; Walsh et al., 2013; Guenther et al., 2014; Murray et al., 2015; Yang et al., 2016; Ainger et al., 2017; Crawfold et al.,…”
Method
Allele-specific quantitative proteomics unravels molecular mechanisms modulated by cis-regulatory PPARG locus variation
Lee, H., Qian, K., von Toerne, C., Hoerburger, L., Claussnitzer, M., Hoffmann, C., Glunk, V., Wahl, S., Breier, M., Eck, F., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx105 · Cited by 10
Tyrosinase inhibitory activities of Carissa opaca Stapf ex haines roots extracts and their phytochemical analysis
Ahmed, D., Malik, W., & Izhar, S. (2017) · Pharmacognosy Magazine · doi:10.4103/pm.pm_561_16 · Cited by 10
“The hyperpigmentation can be caused by various factors such as diseases, drugs, or prolonged exposure to sunlight.[3] The problem can be solved by the use of tyrosinase inhibitors, the substance that can inhibit the enzymatic action of tyrosinase.”
Background
An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer
Kubota, N., & Suyama, M. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-0662-9 · Cited by 11
Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA ‐sequencing
Palmer, J. W., Kumar, N., An, L., White, A. C., Mukhtar, M. S., & Harris, M. L. (2024) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.13169 · Cited by 9
“IRF4 regulates Tyr expression cooperatively with MITF and loss of Irf4 leads to lighter hair color in Mitf mutant mice (Praetorius et al., 2013).”
Background
The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates
Brancato, D., Bruno, F., Coniglio, E., Sturiale, V., Saccone, S., & Federico, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25126602 · Cited by 9
Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta‐Analyses
Zhu, C., Han, Y., Byun, J., Xiao, X., Rothwell, S., Miller, F. W., Lundberg, I. E., Gregersen, P. K., Vencovský, J., Shaw, V. R., et al. (2024) · Arthritis & Rheumatology · doi:10.1002/art.43088 · Cited by 9
“32 Based on ﬁ ne-mapping and colo-calization analyses, rs12203592 might contribute to both the risk of myositis and gene expression levels in EBV-transformed lymphocytes, lung, and whole blood cells, but further studies in more homogeneous populations would be helpful.”
Genetics and epigenetics in vitiligo
Okamura, K., & Suzuki, T. (2025) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2025.01.004 · Cited by 9
Single‐cell profiling of MC1R ‐inhibited melanocytes
Berns, H. M., Watkins‐Chow, D. E., Lu, S., Louphrasitthiphol, P., Zhang, T., Brown, K. M., Moura‐Alves, P., Goding, C. R., & Pavan, W. J. (2023) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.13141 · Cited by 9
“Importantly, TBX3 and MITF shared binding sites at notable pigmentation genes, with four of these having well-described MITF regulatory elements IRF4, MC1R, OCA2 , and TYRP1 (Aoki & Moro, 2002; Gautron et al., 2021; Praetorius et al., 2013; Visser et al., 2012) (Figure 6c).”
Background
Interferon regulatory factor 4b (IRF4b) in Japanese flounder, Paralichthys olivaceus: Sequencing, ubiquitous tissue distribution and inducible expression by poly(I:C) and DNA virus
Liu, D., Chen, J., Zhang, H., Hu, M., Lou, H., Liu, Q., Zhang, S., & Hu, G. (2016) · Developmental & Comparative Immunology · doi:10.1016/j.dci.2016.04.012 · Cited by 9
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Wu, M., Chen, X., Cui, K., Li, H., & Jiang, Y. (2020) · Fish Physiology and Biochemistry · doi:10.1007/s10695-020-00788-7 · Cited by 9
“Assays reveal that interferon regulatory factor 4 (irf4) cooperates withmitf to activate expression of tyr (Praetorius et al. 2013).”
Background
Cell-type specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genesPreprint
Zhang, T., Choi, J., Kovacs, M. A., Shi, J., Xu, M., Program, N. C. S., Goldstein, A. M., Iles, M. M., Duffy, D. L., MacGregor, S., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/231423 · Cited by 9
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Besson, C., Moore, A. L., Wu, W., Vajdic, C. M., de Sanjosé, S., Camp, N. J., Smedby, K. E. E., Shanafelt, T. D., Morton, L. M., Brewer, J. D., et al. (2021) · International Journal of Epidemiology · doi:10.1093/ije/dyab042 · Cited by 7
Genetics of Eye Colour
Duffy, D. L. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0024646 · Cited by 7
Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes
Wong, C., Ng, J. Y., Sio, Y. Y., & Chew, F. T. (2025) · Journal of PHYSIOLOGICAL ANTHROPOLOGY · doi:10.1186/s40101-025-00384-9 · Cited by 7
“IRF4 encodes a transcription factor that regulates immune responses, particularly in the differentiation of CD8( + ) dendritic cells [41] and has also been implicated in pigmentation traits, including skin, hair, and eye colour [42].”
Dynamic regulation of chromatin accessibility during melanocyte stem cell activation
Lee, S. Y., An, L., Soloway, P. D., & White, A. C. (2023) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.13112 · Cited by 6
“Mutations in the TFAP2A gene can cause premature hair graying in humans and defects in melanocyte differentiation in mice and zebrafish (Praetorius et al., 2013; Seberg et al., 2017), and tfap2b is necessary for McSC-dependent melanocyte regeneration in zebrafish (Brombin et al., 2022).”
Background
Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts
Škalamera, D., Stevenson, A. J., Ehmann, A., Ainger, S. A., Lanagan, C. M., Sturm, R. A., & Gabrielli, B. G. (2019) · Journal of Cell Science · doi:10.1242/jcs.234716 · Cited by 6
“RESULTS Effect of oncogene expression on primary melanocytes in monoculture Cultured neonatal foreskin melanoblasts are a well-established in vitro model for human primary melanocytic cells and have been extensively characterised in clonal strains genotyped for melanomarisk-conferring loci (Ainger et al., 2011; Cook e…”
Background
Predicting target genes of non-coding regulatory variants with IRT
Wu, Z., Ioannidis, N. M., & Zou, J. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa254 · Cited by 6
Epigenetic and pharmacological control of pigmentation via Bromodomain Protein 9 ( BRD9 )
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“…other aspects of melanocyte differentiation. iBRD9 also suppressed the expression of transcription factors that are important for pigmentation gene expression, including IRF4 (Interferon Regulatory Factor 4) (Praetorius et al., 2013) and ETS1 (ETS Proto-oncogene 1) (Saldana-Caboverde et al., 2015).”
Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity
Mies, G., Tsao, N. L., Houy, A., Coupland, S. E., Kalirai, H., Försti, A., Hemminki, K., Thomsen, H., Stern, M., Shields, C. L., et al. (2025) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2025.100465 · Cited by 6
A 2-bp deletion in intron 1 of TMEM182 is associated with TMEM182 mRNA expression and chicken body weight
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“A variant in intron 4 of Interferon Regulatory Factor 4 (IRF4) affects the activity of an enhancer for IRF4 by disrupting the binding of transcription factor activator protein 2α (Praetorius et al. 2013).”
Background
Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations
Zhang, L., Tie, X., Che, F., Wang, G., Ge, Y., Li, B., & Yang, Y. (2023) · Molecular Cytogenetics · doi:10.1186/s13039-023-00640-6 · Cited by 5
“The IRF4 gene was first reported to be associated with skin/hair/eye pigmentation (OMIM*611,724) in the OMIM database [63, 64].”
Background
Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency
Rivera‐Paredez, B., Hidalgo‐Bravo, A., López-Montoya, P., Becerra‐Cervera, A., Patiño, N., Denova‐Gutiérrez, E., Salmerón, J., & Velázquez‐Cruz, R. (2024) · Scientific Reports · doi:10.1038/s41598-024-68437-0 · Cited by 4
“The derived T allele of the rs12203592 in IRF4 reduces the ability of TFAP2A to bind to the intronic enhancer of IRF4 , suppressing its expression and therefore, impairing the cooperative induction of TYR 34 .”
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Intrinsic and Extrinsic Factors Associated with Hair Graying (Canities) and Therapeutic Potential of Plant Extracts and Phytochemicals
Boo, Y. C. (2024) · Applied Sciences · doi:10.3390/app14177450 · Cited by 4
Does facial hair greying in chimpanzees provide a salient progressive cue of aging?
Tapanes, E., Anestis, S., Kamilar, J., & Bradley, B. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235610 · Cited by 3
RETRACTION: Illuminating the dark road from schizophrenia genetic associations to disease mechanisms
Li, M., & Weinberger, D. R. (2016) · National Science Review · doi:10.1093/nsr/nww065 · Cited by 4
Retracted
kinesin recruitment by adapter SKIP on melanosomes is dynamically controlled by LC3B phosphorylationPreprint
Subramaniam, Y. J., Murthy, D., Raja, D. A., Ramkumar, A., Sivasubbu, S., McEwan, D. G., Gokhale, R. S., & Natarajan, V. T. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.11.434917 · Cited by 4
“E. GST-SKIP or GST interacted with melanosomal lysate and the pulled-down was probed with anti-Kif1b antibody, anti-Kif5b antibody and anti-LC3B antibody.”
BackgroundMethodInfluential
A 3D Genome Atlas of Genetic Variants and Their Pathological Effects in Cancer
Tang, L., Hill, M. C., He, M., Chen, J., Wang, Z., Ellinor, P. T., & Li, M. (2025) · Advanced Science · doi:10.1002/advs.202408420 · Cited by 3
Melanocyte stem cells in skin diseases and their potential in cell-based therapy.
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Epidemiological survey of the quantity and anatomical position of facial pigmented spots in relation to age in 454 Japanese women
Kikuchi, K., Katsuyama, M., Yoshikawa, T., Wakeshima, N., & Iizuka, H. (2022) · The Journal of Dermatology · doi:10.1111/1346-8138.16561 · Cited by 4
Novel Genetic Associations for Skin Aging Phenotypes and Validation of Previously Reported Skin GWAS Results
Cha, M.-Y., Choi, J., Lee, D., Lee, S., Lee, S.-I., Park, J.-H., Shin, J.-H., Suh, I. S., Kim, B. H., & Hong, K. (2022) · Applied Sciences · doi:10.3390/app122211422 · Cited by 3
Human inborn errors of immunity associated with IRF4
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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentationPreprint
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Àgora de salut vol. V (número complet)
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Proof of concept study deploying CRISPR inhibition and activation opens new avenues for systematic biological exploration in zebrafishPreprint
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“Zebrafish melanocytes have been extensively studied by our group and others (4,6,41,42), and targeting genes in this pathway is highly relevant to the study of human disease, including melanoma (43–45), Waardenburg Syndrome (46,47), microphthalmia, and Hirschsprung's disease (48,49).”
The genetic architecture of human skin pigmentation: evolution and adaptation across global populations
Bose, A., Sengupta, M., Maitra, S., Bandyopadhyay, A. R., & Schaschl, H. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1870791 · Cited by 2
“The intronic IRF4 variant rs12203592 influences skin pigmentation, tanning response, and hair pigmentation, but shows weaker evolutionary signals than the major sweep loci (Praetorius et al., 2013).”
P300 regulates Melanophilin expression by modulating TFAP2A binding through histone acetylation
Jo, C. S., Hairu, Z., Baek, G. C., Lee, E. J., You, C. M., & Hwang, J. S. (2025) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2025.04.002 · Cited by 2
Molecular basis for the functional roles of the multimorphic T95R mutation of IRF4 causing human autosomal dominant combined immunodeficiency
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Assessment of the Influence of UVR in Cutaneous Melanoma
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DNA-based prediction of eye color in Latin American population applying Machine Learning models
Martínez, C. A., Hohl, D. M., Gutiérrez, M. D. L. Á., Palmal, S., Faux, P., Adhikari, K., González‐José, R., Bortolini, M. C., Acuña-Alonzo, V., Gallo, C., et al. (2025) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2025.110404 · Cited by 2
Etiopathogenetic Similarities of Combined Forms of Localized Scleroderma and Vitiligo
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Mitf regulates gene expression networks implicated in B cell homeostasis, germinal center responses, and tolerance
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Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi
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“The SNP in this gene, rs12203592, is located in an enhancer region that regulates IRF4 function, 41 and its derived T allele has already been associated with dark hair color, light eye color, cutaneous freckling, and decreased ability to tan.”
Harnessing population genetics and animal models to uncover the genetics of skin scarring
Peña, O. A., Cañadas‐Garre, M., Collins, I., Timpson, N. J., & Martin, P. B. (2025) · Journal of Plastic Reconstructive & Aesthetic Surgery · doi:10.1016/j.bjps.2025.11.010 · Cited by 1
“81”
Identificación de variantes genéticas asociadas a la sensibilidad solar
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In Silico Prediction of Transcription Factor Collaborations Underlying Phenotypic Sexual Dimorphism in Zebrafish (Danio rerio)
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QTL Mapping for Age-Related Eye Pigmentation in the Pink-Eyed Dilution Castaneus Mutant Mouse
Nakano, T., Takenaka, M., Sugiyama, M., & Ishikawa, A. (2022) · Genes · doi:10.3390/genes13071138 · Cited by 1
“In normal mouse melanocytes, it has been reported that MITF and TFAP2A proteins bind together to the enhancer element in the intron 4 of interferon regulatory factor (4Irf4) and cooperatively regulate Irf4 expression, resulting in activation of Tyr expression and thus normal pigmentation [33].”
Background
Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs
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Allogeneic hematopoietic stem cell transplantation in a patient with combined immunodeficiency caused by IRF4 mutation
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An Updated Genome Assembly Improves Understanding of the Transcriptional Regulation of Coloration in Midas Cichlid
Lv, Y., Li, Y., Liu, Y., Wen, Z., Yang, Y., Qin, C., Shi, Q., & Mu, X. (2022) · Frontiers in Marine Science · doi:10.3389/fmars.2022.950573 · Cited by 1
Influence of ancestry and genetic variability of the MITF transcription factor and its targets TYR, TYRP1 and DCT on the development of vitiligo in a Brazilian population sample
Marcorin, L. (2021) · doi:10.11606/t.17.2021.tde-06122021-122111 · Cited by 1
Ophthalmic imaging as a measure of cardiovascular and neurological health: a multi-omic analysis of deep-learning derived phenotypesPreprint
Julian, T. H., Dou, H., Duan, J., Huang, J., Yoo, E. M., Green, D. J., Strange, A., Alhathli, E. M., Sperrin, M., Keane, P. A., et al. (2025) · medRxiv · doi:10.1101/2025.08.04.25332962 · Cited by 1
“Again, several of these variants were in genes with key roles in pigmentation ( TYR , OCA2 , DCT, and IRF4 ) 19 .”
Non-coding polymorphism in IRF4 reveals function
Lokody, I. B. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3654
IRF4 (interferon regulatory factor 4)
Shukla, V., & Lu, R. (2014) · Atlas of Genetics and Cytogenetics in Oncology and Haematology · doi:10.4267/2042/54034
SNP ing away at human skin color
Wallace, M. D., Box, N. F., & Bond, G. L. (2014) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12229
“They found that a variant in intron 4 of IRF4 (SNP rs12203592 T/C) – strongly associated with sun sensitivity, freckles, blue eyes, and brown hair– lies within a transcriptional enhancer that affects IRF4 expression (Praetorius et al., 2013).”
Background
Forensic applications of associating human scalp hair morphology and pigmentation analysis at the microscopic and molecular level
Stubbs, W. K. (2017) · IUScholarWorks (Indiana University) · doi:10.7912/c2/2385
Sequenciamento de nova geração do gene IRF4: identificação de variações associadas a fenótipos de pigmentação na população brasileira
de Oliveira, M. L. G. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.17.2017.tde-05012017-120156
Cells to Surgery Quiz: June 2018
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Understanding Genomic Variations in the Context of Health and Disease: Annotation, Interpretation, and Challenges
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Daub, Discolouration, Pigmentation-Solar Lentigo
Bajaj, A. (2019) · Annals of Dermatological Research · doi:10.29328/journal.adr.1001006
A MUC5B polymorphism associated with Idiopathic Pulmonary Fibrosis mediates overexpression through decreased CpG methylation and C/EBPβ transcriptional activationPreprint
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Gene Discovery Using Twins
Duffy, D. L., Sturm, R. A., Zhu, G., & MacGregor, S. (2020) · Twin Research and Human Genetics · doi:10.1017/thg.2020.38
“…Sulem et al., 2007), we had seen association to a nearby SNP, but with the strength of the association to rs12203592 and later functional work (Praetorius et al., 2013, showed that this was the key variant), we observed a most interesting flip-flop of the association with mole count (Duffy et…”
Result
Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potentialPreprint
Brombin, A., Simpson, D. J., Trávníčková, J., Brunsdon, H., Zeng, Z., Lu, Y., Young, A. I. J., Chandra, T., & Patton, E. E. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.18.448859
“Although mutation in its paralog tfap2a is associated with premature hair greying in humans (Praetorius et al., 2013), and results in pigmentation defects in mice and zebrafish (Seberg et al., 2017), the role of tfap2b in melanocyte biology is largely unexplored.”
Background
Linking the epigonome and transcriptome
Kuijpers, T. (2021) · Research Publications (Maastricht University) · doi:10.26481/dis.20211201tk
Application of CRISPR-Cas9 to interrogate novel gene functions in cutaneous melanoma
Matsuyama, L. S. A. S. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.9.2021.tde-23022022-155211
Peer Review #1 of "Evidence that ebolaviruses and cuevaviruses have been diverging from marburgviruses since the Miocene (v0.1)"
(2014) · PeerJ · doi:10.7287/peerj.556v0.1/reviews/1

Authors: Praetorius, C., Grill, C., Stacey, S. N., Metcalf, A. M., Gorkin, D. U., Robinson, K. C., Van Otterloo, E., Kim, R. S. Q., Bergsteinsdottir, K., Ogmundsdottir, M. H., Magnusdottir, E., Mishra, P. J., Davis, S. R., Guo, T., Zaidi, M. R., Helgason, A. S., Sigurdsson, M. I., Meltzer, P. S., Merlino, G., Petit, V., Larue, L., Loftus, S. K., Adams, D. R., Sobhiafshar, U., Emre, N. C. T., Pavan, W. J., Cornell, R., Smith, A. G., McCallion, A. S., Fisher, D. E., Stefansson, K., Sturm, R. A., & Steingrimsson, E.
Affiliations: University of Iceland (IS)
deCODE Genetics (Iceland) (IS)
The University of Queensland (AU)
Johns Hopkins University (US)
Harvard University (US)
National Institutes of Health (US)
Institut Curie (FR)
Boğaziçi University (TR)
University of Iowa (US)
ORCID: Praetorius, Christian
Stacey, Simon N.
Gorkin, David U.
Robinson, Kathleen C.
Ogmundsdottir, Margret H.
Davis, Sean R.
Guo, Theresa
Zaidi, M. Raza
Helgason, Agnar S.
Sigurdsson, Martin I.
Meltzer, Paul S.
Merlino, Glenn
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.
Sturm, Richard A.
Venue: Cell
Publisher: Elsevier BV
Published: 2013-11
Volume: 155
Issue: 5
Pages: 1022-1033
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2013.10.022
PMC: PMC3873608
OpenAlex: W2034575591
Cited by: 228
References: 67
Citations by year: 2026: 9 · 2025: 18 · 2024: 17 · 2023: 17 · 2022: 22 · 2021: 18 · 2020: 22 · 2019: 15 · 2018: 22 · 2017: 20 · 2016: 13 · 2015: 18 · 2014: 16 · 2013: 1
FWCI: 9.28
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 385 d)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
ORBi (University of Liège) (submittedVersion, other-oa)
Funders: National Science Foundation
Melanoma Research Alliance
Dr. Miriam and Sheldon G. Adelson Medical Research Foundation
Háskóli Íslands
Institut National Du Cancer
National Institutes of Health
National Cancer Institute (K22CA163799, P01CA163222)
National Institute of General Medical Sciences (GM071648, T32GM007814, R01GM071648)
National Institute of Neurological Disorders and Stroke (R01NS062972, NS062972)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR062547, R01AR043369)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: IRF4, melanogenesis, skin pigmentation, tyrosinase, MITF, TFAP2A, transcriptional regulation, sun sensitivity, freckles, eye color, hair color, gene regulatory networks, zebrafish, mice
MeSH terms: Interferon Regulatory Factor-4, Animals, Base Sequence, Enhancer Elements, Genetic, Humans, Melanocytes, Molecular Sequence Data, Pigmentation, Zebrafish, Signal Transduction, Polymorphism, Single Nucleotide, Transcription Factor AP-2, Interferon Regulatory Factors, Mice

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A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

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