{"doi":"10.1016/j.cell.2013.10.022","title":"A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway","abstract":null,"journal":"Cell","year":2013,"id":598445,"datarank":0.8163626565782691,"base_score":5.442417710521793,"endowment":5.442417710521793,"self_citation_contribution":0.8163626565782691,"citation_network_contribution":0.0,"self_endowment_contribution":0.8163626565782691,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":230,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":2,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1533472,"name":"Christine Grill","orcid":null,"position":1,"is_corresponding":false},{"id":1533473,"name":"Simon N. 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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.","is_dataset_classified":null,"base_score":5.442417710521793,"endowment":5.442417710521793,"datacite_reuse_total":2,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"24267888","pmcid":"PMC3873608","openalex_id":"https://openalex.org/W2034575591","authors":[],"funders":[{"funder_name":"NIAMS NIH HHS","grant_id":"5R01 AR043369-16","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"R01 GM071648","title":null},{"funder_name":"NCI NIH HHS","grant_id":"P01 CA163222","title":null},{"funder_name":"NCI NIH HHS","grant_id":"K22 CA163799","title":null},{"funder_name":"NINDS NIH HHS","grant_id":"NS062972","title":null},{"funder_name":"NIAMS NIH HHS","grant_id":"R01 AR062547","title":null},{"funder_name":"NIAMS NIH HHS","grant_id":"R01 AR043369","title":null},{"funder_name":"NINDS NIH 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and skin pigmentation","RNA regulation and disease","Skin Protection and Aging","Biology","Medicine","0301 basic medicine","03 medical and health sciences"],"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"],"keywords":["Biology","Microphthalmia-associated transcription factor","IRF4","Tyrosinase","Genetics","Polymorphism (computer science)","Allele","Genotype","Gene","Transcription factor","Enzyme","Biochemistry","570","Biochemistry & Molecular Biology","Transcription Factor AP-2/metabolism","1300 Biochemistry","Transcription Factor AP-2/chemistry","Molecular Sequence Data","610","Genetics and Molecular Biology","CELL BIOLOGY","Biochimie, biophysique & biologie moléculaire","Polymorphism, Single Nucleotide","Interferon Regulatory 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