{"doi":"10.1002/bdra.20763","title":"Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3′ untranslated regions","abstract":null,"journal":"Birth Defects Research Part A: Clinical and Molecular Teratology","year":2011,"id":645050,"datarank":0.4636563680037475,"base_score":3.091042453358316,"endowment":3.091042453358316,"self_citation_contribution":0.4636563680037475,"citation_network_contribution":0.0,"self_endowment_contribution":0.4636563680037475,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":21,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"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":900924,"name":"J. Christopher States","orcid":"0000-0003-4717-4422","position":1,"is_corresponding":false},{"id":538035,"name":"Yang Wang","orcid":"0000-0002-0078-8585","position":2,"is_corresponding":false},{"id":117876,"name":"David W. Hein","orcid":"0000-0003-3261-9775","position":3,"is_corresponding":false},{"id":1679396,"name":"Yuanqi Zhu","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3′ untranslated regions","abstract":"BACKGROUND: The functional effects of N-acetyltransferase 1 (NAT1) polymorphisms and haplotypes are poorly understood, compromising the validity of associations reported with diseases, including birth defects and numerous cancers. METHODS: We investigated the effects of genetic polymorphisms within the NAT1 coding region and the 3'-untranslated region (3'-UTR) and their associated haplotypes on N- and O-acetyltransferase catalytic activities, and NAT1 mRNA and protein levels following recombinant expression in COS-1 cells. RESULTS: 1088T>A (rs1057126; 3'-UTR) and 1095C>A (rs15561; 3'-UTR) each slightly reduced NAT1 catalytic activity and NAT1 mRNA and protein levels. A 9-bp (TAATAATAA) deletion between nucleotides 1065 and 1090 (3'-UTR) reduced NAT1 catalytic activity and NAT1 mRNA and protein levels. In contrast, a 445G>A (rs4987076; V149I), 459G>A (rs4986990; T153T), and 640T>G (rs4986783; S214A) coding region haplotype present in NAT1*11 increased NAT1 catalytic activity and NAT1 protein, but not NAT1 mRNA levels. A combination of the 9-bp (TAATAATAA) deletion and the 445G>A, 459G>A, and 640T>G coding region haplotypes, both present in NAT1*11, appeared to neutralize the opposing effects on NAT1 protein and catalytic activity, resulting in levels of NAT1 protein and catalytic activity that did not differ significantly from the NAT1*4 reference. CONCLUSIONS: Because 1095C>A (3'-UTR) is the sole polymorphism present in NAT1*3, our data suggest that NAT1*3 is not functionally equivalent to the NAT1*4 reference. Furthermore, our findings provide biologic support for reported associations of 1088T>A and 1095C>A polymorphisms with birth defects.","is_dataset_classified":null,"base_score":3.091042453358316,"endowment":3.091042453358316,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21290563","pmcid":"PMC3252750","openalex_id":"https://openalex.org/W2067388411","authors":[],"funders":[{"funder_name":"NCI NIH HHS","grant_id":"R01 CA034627","title":null},{"funder_name":"NCI NIH HHS","grant_id":"R01-CA034627","title":null},{"funder_name":"NIEHS NIH HHS","grant_id":"P30-ES014443","title":null},{"funder_name":"NIEHS NIH HHS","grant_id":"P30 ES014443","title":null}],"total_grants":4,"fwci":0.7209,"citation_percentile":0.72207846,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":1},{"year":2014,"count":2},{"year":2015,"count":2},{"year":2017,"count":1},{"year":2018,"count":2},{"year":2019,"count":1},{"year":2020,"count":2},{"year":2022,"count":2},{"year":2024,"count":2},{"year":2025,"count":1}],"oa_status":"closed","license":"http://doi.wiley.com/10.1002/tdm_license_1.1","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fbdra.20763","host_type":"publisher"},{"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.20763/fullpdf","host_type":"publisher"},{"url":"https://doi.org/10.1002/bdra.20763","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21290563","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3252750","host_type":"repository"}],"fields_of_study":["Carcinogens and Genotoxicity Assessment","Folate and B Vitamins Research","Acute Lymphoblastic Leukemia research","3' Untranslated Regions","Animals","Arylamine N-Acetyltransferase","Blotting, Western","COS Cells","Cell Line","Chlorocebus aethiops","Congenital Abnormalities","Genetic Predisposition to Disease","Haplotypes","Humans","Isoenzymes","Lung","Polymerase Chain Reaction","Polymorphism, Single Nucleotide","RNA, Messenger","Recombinant Proteins","Sequence Analysis, DNA","Sequence Deletion"],"mesh_terms":["Congenital Abnormalities","Animals","Arylamine N-Acetyltransferase","Cell Line","Chlorocebus aethiops","Haplotypes","Humans","Isoenzymes","Lung","Recombinant Proteins","RNA, Messenger","Blotting, Western","Polymerase Chain Reaction","Sequence Deletion","Sequence Analysis, DNA","COS Cells","Genetic Predisposition to Disease","3' Untranslated Regions","Polymorphism, Single Nucleotide"],"keywords":["Genetics","Coding region","Biology","Three prime untranslated region","Untranslated region","N-acetyltransferase","Five prime untranslated region","Computational biology","Gene","Evolutionary biology","Messenger RNA"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"gen"},{"name":"refsnp"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-09T02:43:07.541213Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}