{"doi":"10.7554/elife.79488","title":"MicroRNA-eQTLs in the developing human neocortex link miR-4707-3p expression to brain size","abstract":"Expression quantitative trait loci (eQTL) data have proven important for linking non-coding loci to protein-coding genes. But eQTL studies rarely measure microRNAs (miRNAs), small non-coding RNAs known to play a role in human brain development and neurogenesis. Here, we performed small-RNA sequencing across 212 mid-gestation human neocortical tissue samples, measured 907 expressed miRNAs, discovering 111 of which were novel, and identified 85 local-miRNA-eQTLs. Colocalization of miRNA-eQTLs with GWAS summary statistics yielded one robust colocalization of miR-4707-3p expression with educational attainment and brain size phenotypes, where the miRNA expression increasing allele was associated with decreased brain size. Exogenous expression of miR-4707-3p in primary human neural progenitor cells decreased expression of predicted targets and increased cell proliferation, indicating miR-4707-3p modulates progenitor gene regulation and cell fate decisions. Integrating miRNA-eQTLs with existing GWAS yielded evidence of a miRNA that may influence human brain size and function via modulation of neocortical brain development.","journal":"eLife","year":2023,"id":370553,"datarank":0.34828228259373584,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0563957602354388,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0563957602354388,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":4,"citers_with_citation_signal":3,"citers_with_endowment":3,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8601,"is_data_producer":true,"deposit_databanks":{"dbGaP":["phs003106.v1.p1","phs001900.v1.p1"]},"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":279703,"name":"Nil Aygün","orcid":null,"position":1,"is_corresponding":false},{"id":707110,"name":"Niyanta K Patel","orcid":null,"position":2,"is_corresponding":false},{"id":555314,"name":"Oleh Krupa","orcid":null,"position":3,"is_corresponding":false},{"id":277050,"name":"Dan Liang","orcid":"0000-0001-7407-3139","position":4,"is_corresponding":false},{"id":254253,"name":"Justin M. Wolter","orcid":"0000-0002-3021-3993","position":5,"is_corresponding":false},{"id":21398,"name":"Daniel H. Geschwind","orcid":"0000-0003-2896-3450","position":6,"is_corresponding":false},{"id":42660,"name":"Luis de la Torre-Ubieta","orcid":"0000-0001-8059-6243","position":7,"is_corresponding":false},{"id":21541,"name":"Jason L. Stein","orcid":"0000-0003-4829-0513","position":8,"is_corresponding":false},{"id":554624,"name":"Michael J. Lafferty","orcid":"0000-0002-1000-0480","position":0,"is_corresponding":true}],"reference_count":107,"raw_metadata":null,"created_at":"2026-07-19T01:15:41.237096Z","pmid":"36629315","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":[]}