{"doi":"10.3390/genes14010147","title":"ADGR: Admixture-Informed Differential Gene Regulation","abstract":"<jats:p>The regulatory elements in proximal and distal regions of genes are involved in the regulation of gene expression. Risk alleles in intronic and intergenic regions may alter gene expression by modifying the binding affinity and stability of diverse DNA-binding proteins implicated in gene expression regulation. By focusing on the local ancestral structure of coding and regulatory regions using the paired whole-genome sequence and tissue-wide transcriptome datasets from the Genotype-Tissue Expression project, we investigated the impact of genetic variants, in aggregate, on tissue-specific gene expression regulation. Local ancestral origins of the coding region, immediate and distant upstream regions, and distal regulatory region were determined using RFMix with the reference panel from the 1000 Genomes Project. For each tissue, inter-individual variation of gene expression levels explained by concordant or discordant local ancestry between coding and regulatory regions was estimated. Compared to European, African descent showed more frequent change in local ancestral structure, with shorter haplotype blocks. The expression level of the Adenosine Deaminase Like (ADAL) gene was significantly associated with admixed ancestral structure in the regulatory region across multiple tissue types. Further validations are required to understand the impact of the local ancestral structure of regulatory regions on gene expression regulation in humans and other species.</jats:p>","journal":"Genes","year":2023,"id":21313,"datarank":0.11124584379357148,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.007273766709579673,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.007273766709579673,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":1,"citers_with_citation_signal":1,"citers_with_endowment":1,"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":96018,"name":"Sek Won Kong","orcid":"0000-0003-4877-7567","position":1,"is_corresponding":false},{"id":137702,"name":"In-Hee Lee","orcid":"0000-0002-8857-1355","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"36672888","pmcid":"PMC9859415","openalex_id":"https://openalex.org/W4313509691","authors":[],"funders":[{"funder_name":"National Center for Advancing Translational Sciences","grant_id":"U01TR002623","title":null},{"funder_name":"National Center for Advancing Translational Sciences","grant_id":"1OT2OD032720","title":null},{"funder_name":"National Institutes of Health","grant_id":"1OT2OD032720-01","title":"Bridge2AI: Voice as a Biomarker of Health - Building an ethically sourced, bioaccoustic database to understand disease like never before"},{"funder_name":"National Institutes of Health","grant_id":"5U01TR002623-02","title":"Instrumenting the Delivery System for a Genomics Research Information Commons"},{"funder_name":"National Institutes of Health","grant_id":"3OT2OD032720-01S2","title":"Bridge2AI: Voice as a Biomarker of Health - Building an ethically sourced, bioaccoustic database to understand disease like never before"}],"total_grants":5,"fwci":0.1454,"citation_percentile":0.55784324,"influential_citations":0,"citation_trend":[{"year":2024,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2073-4425/14/1/147/pdf?version=1672914903","host_type":"journal"},{"url":"https://www.mdpi.com/2073-4425/14/1/147/pdf?version=1672914903","host_type":"GOLD"},{"url":"https://www.mdpi.com/2073-4425/14/1/147/pdf?version=1672914903","host_type":"publisher"},{"url":"https://www.mdpi.com/2073-4425/14/1/147/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/genes14010147","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/36672888","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9859415","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/genes14010147","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9859415/pdf/genes-14-00147.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9859415","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9859415?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.3390/genes14010147","host_type":""}],"fields_of_study":["RNA modifications and cancer","RNA Research and Splicing","RNA and protein synthesis mechanisms","Medicine","Biology","0301 basic medicine","0303 health sciences","03 medical and health sciences","Humans","Alleles","Black People","Gene Expression Regulation","Haplotypes","White People"],"mesh_terms":["Alleles","Gene Expression Regulation","Haplotypes","Humans","Black People","White People"],"keywords":["Biology","Regulatory sequence","Gene","Genetics","Regulation of gene expression","Gene expression","Coding region","Expression quantitative trait loci","Genome","Transcriptome","Regulator gene","Allele","Haplotype","Genotype","Single-nucleotide polymorphism","Regulatory elements","Local Ancestry","Genotype-tissue Expression","Black People","Article","White People","Gene Expression Regulation","Haplotypes","Humans","Alleles"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"dbgap"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-06T15:28:24.717895Z","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":[]}