{"doi":"10.1093/nar/gkv1300","title":"Analysis of long-range interactions in primary human cells identifies cooperative<i>CFTR</i>regulatory elements","abstract":null,"journal":"Nucleic Acids Research","year":2016,"id":684582,"datarank":0.49983067652628066,"base_score":3.332204510175204,"endowment":3.332204510175204,"self_citation_contribution":0.49983067652628066,"citation_network_contribution":0.0,"self_endowment_contribution":0.49983067652628066,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":27,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":4,"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":1788458,"name":"Soizik Berlivet","orcid":null,"position":1,"is_corresponding":false},{"id":910822,"name":"Chandran Ka","orcid":null,"position":2,"is_corresponding":false},{"id":910317,"name":"Gérald Le Gac","orcid":"0000-0003-3236-7280","position":3,"is_corresponding":false},{"id":87114,"name":"Josée Dostie","orcid":"0000-0002-1380-0467","position":4,"is_corresponding":false},{"id":411144,"name":"Claude Férec","orcid":"0000-0002-2325-0710","position":5,"is_corresponding":false},{"id":1788457,"name":"Stéphanie Moisan","orcid":"0000-0001-7461-6076","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Analysis of long-range interactions in primary human cells identifies cooperative<i>CFTR</i>regulatory elements","abstract":"A mechanism by which control DNA elements regulate transcription over large linear genomic distances is by achieving close physical proximity with genes, and looping of the intervening chromatin paths. Alterations of such regulatory 'chromatin looping' systems are likely to play a critical role in human genetic disease at large. Here, we studied the spatial organization of a ≈790 kb locus encompassing the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Dysregulation of CFTR is responsible for cystic fibrosis, which is the most common lethal genetic disorder in Caucasian populations. CFTR is a relatively large gene of 189 kb with a rather complex tissue-specific and temporal expression profile. We used chromatin conformation at the CFTR locus to identify new DNA sequences that regulate its transcription. By comparing 5C chromatin interaction maps of the CFTR locus in expressing and non-expressing human primary cells, we identified several new contact points between the CFTR promoter and its surroundings, in addition to regions featuring previously described regulatory elements. We demonstrate that two of these novel interacting regions cooperatively increase CFTR expression, and suggest that the new enhancer elements located on either side of the gene are brought together through chromatin looping via CTCF.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26615198","pmcid":"PMC4824072","openalex_id":null,"authors":[],"funders":[{"funder_name":"Canadian Institutes of Health Research","grant_id":"MOP-86716","title":null},{"funder_name":"Canadian Institutes of Health Research","grant_id":"MOP-142451","title":null},{"funder_name":"Canadian Institutes of Health Research","grant_id":"unidentified","title":"unidentified"}],"total_grants":3,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"gold","license":"CC BY NC","oa_locations":[{"url":"http://academic.oup.com/nar/article-pdf/44/6/2564/18787635/gkv1300.pdf","host_type":"publisher"},{"url":"https://europepmc.org/articles/PMC4824072","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4824072?pdf=render","host_type":"Europe_PMC"},{"url":"https://doi.org/10.1093/nar/gkv1300","host_type":""},{"url":"https://academic.oup.com/nar/article-pdf/44/6/2564/18787635/gkv1300.pdf","host_type":""},{"url":"https://pubmed.ncbi.nlm.nih.gov/26615198","host_type":""},{"url":"http://dx.doi.org/10.1093/nar/gkv1300","host_type":""},{"url":"https://dx.doi.org/10.1093/nar/gkv1300","host_type":""},{"url":"https://doi.org/https://doi.org/10.1093/nar/gkv1300","host_type":""}],"fields_of_study":["0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":["Nasal Cavity","Chromatin","Fibroblasts","Epithelial Cells","Skin","Humans","Cystic Fibrosis","Cystic Fibrosis Transmembrane Conductance Regulator","Transcription, Genetic","Enhancer Elements, Genetic","Promoter Regions, Genetic","Genetic Loci","Primary Cell Culture","Healthy Volunteers"],"keywords":["Molecular Biology/Genomics [q-bio.GN]","570","Cystic Fibrosis","Transcription, Genetic","Gene regulation, Chromatin and Epigenetics","Primary Cell Culture","Cystic Fibrosis Transmembrane Conductance Regulator","Epithelial Cells","[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry","Fibroblasts","Chromatin","Healthy Volunteers","576","Enhancer Elements, Genetic","Genetic Loci","Humans","Nasal Cavity","Promoter Regions, Genetic","Skin"],"sdg_mappings":[],"linked_datasets":[{"doi":"10.6084/m9.figshare.25459666.v1","title":"Additional file 2 of Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences","publisher":"figshare","resource_type":"Presentation"},{"doi":"10.6084/m9.figshare.25459666","title":"Additional file 2 of Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences","publisher":"figshare","resource_type":"Presentation"},{"doi":"10.6084/m9.figshare.25459520","title":"Additional file 1 of Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.25459520.v1","title":"Additional file 1 of Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences","publisher":"figshare","resource_type":"Dataset"}],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"geo"},{"name":"igsr"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T14:31:05.585743Z","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":[]}