{"doi":"10.1101/2024.09.26.615256","title":"Human-specific gene expansions contribute to brain evolution","abstract":"Summary Duplicated genes expanded in the human lineage likely contributed to brain evolution, yet challenges exist in their discovery due to sequence-assembly errors. We used a complete telomere-to-telomere genome sequence to identify 213 human-specific gene families. From these, 362 paralogs were found in all modern human genomes tested and brain transcriptomes, making them top candidates contributing to human-universal brain features. Choosing a subset of paralogs, long-read DNA sequencing of hundreds of modern humans revealed previously hidden signatures of selection, including for T-cell marker CD8B . To understand roles in brain development, we generated zebrafish CRISPR “knockout” models of nine orthologs and introduced mRNA-encoding paralogs, effectively “humanizing” larvae. Our findings implicate two genes in possibly contributing to hallmark features of the human brain: GPR89B in dosage-mediated brain expansion and FRMPD2B in altered synapse signaling. Our holistic approach provides insights and a comprehensive resource for studying gene expansion drivers of human brain evolution.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2024,"id":485713,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9195,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":498783,"name":"José M. Uribe‐Salazar","orcid":"0000-0003-4875-818X","position":1,"is_corresponding":false},{"id":108057,"name":"Gulhan Kaya","orcid":"0000-0003-3142-7886","position":2,"is_corresponding":false},{"id":1329234,"name":"Ricardo Valdarrago","orcid":null,"position":3,"is_corresponding":false},{"id":738023,"name":"Aarthi Sekar","orcid":null,"position":4,"is_corresponding":false},{"id":849722,"name":"Nicholas K. Haghani","orcid":"0000-0002-0489-9776","position":5,"is_corresponding":false},{"id":469239,"name":"Keiko Hino","orcid":"0000-0002-7146-3622","position":6,"is_corresponding":false},{"id":998582,"name":"Gabriana N. La","orcid":"0000-0002-9007-3355","position":7,"is_corresponding":false},{"id":998583,"name":"Natasha Ann F. Mariano","orcid":"0000-0002-6665-4512","position":8,"is_corresponding":false},{"id":568933,"name":"Cole Ingamells","orcid":"0000-0003-4706-2666","position":9,"is_corresponding":false},{"id":1329235,"name":"Aidan E. Baraban","orcid":null,"position":10,"is_corresponding":false},{"id":1329236,"name":"Zoeb Jamal","orcid":null,"position":11,"is_corresponding":false},{"id":243329,"name":"Tychele N. Turner","orcid":"0000-0001-8246-6477","position":12,"is_corresponding":false},{"id":19956,"name":"Eric D. Green","orcid":"0000-0002-2974-3823","position":13,"is_corresponding":false},{"id":252457,"name":"Sergi Simó","orcid":"0000-0002-8344-0313","position":14,"is_corresponding":false},{"id":832316,"name":"Gerald Quon","orcid":"0000-0002-1716-0153","position":15,"is_corresponding":false},{"id":40412,"name":"Aida M. Andrés","orcid":"0000-0002-8590-9672","position":16,"is_corresponding":false},{"id":49047,"name":"Megan Y. Dennis","orcid":"0000-0002-8502-5420","position":17,"is_corresponding":false},{"id":49037,"name":"Daniela C. Soto","orcid":"0000-0002-6292-655X","position":0,"is_corresponding":true}],"reference_count":234,"raw_metadata":null,"created_at":"2026-07-19T02:07:52.536246Z","pmid":"39386494","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":[]}