{"doi":"10.1093/hmg/ddac207","title":"Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation","abstract":"Genomic imprinting results in gene expression bias caused by parental chromosome of origin and occurs in genes with important roles during human brain development. However, the cell-type and temporal specificity of imprinting during human neurogenesis is generally unknown. By detecting within-donor allelic biases in chromatin accessibility and gene expression that are unrelated to cross-donor genotype, we inferred imprinting in both primary human neural progenitor cells and their differentiated neuronal progeny from up to 85 donors. We identified 43/20 putatively imprinted regulatory elements (IREs) in neurons/progenitors, and 133/79 putatively imprinted genes in neurons/progenitors. Although 10 IREs and 42 genes were shared between neurons and progenitors, most putative imprinting was only detected within specific cell types. In addition to well-known imprinted genes and their promoters, we inferred novel putative IREs and imprinted genes. Consistent with both DNA methylation-based and H3K27me3-based regulation of imprinted expression, some putative IREs also overlapped with differentially methylated or histone-marked regions. Finally, we identified a progenitor-specific putatively imprinted gene overlapping with copy number variation that is associated with uniparental disomy-like phenotypes. Our results can therefore be useful in interpreting the function of variants identified in future parent-of-origin association studies.","journal":"Human Molecular Genetics","year":2022,"id":287596,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9556,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","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":14661,"name":"Nana Matoba","orcid":"0000-0001-5329-0134","position":2,"is_corresponding":false},{"id":275062,"name":"Folami Ideraabdullah","orcid":"0000-0002-5754-2615","position":3,"is_corresponding":false},{"id":29945,"name":"Michael I. Love","orcid":"0000-0001-8401-0545","position":4,"is_corresponding":false},{"id":21541,"name":"Jason L. Stein","orcid":"0000-0003-4829-0513","position":5,"is_corresponding":false},{"id":277050,"name":"Dan Liang","orcid":"0000-0001-7407-3139","position":0,"is_corresponding":true}],"reference_count":114,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T00:30:01.051685Z","pmid":"35994039","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":[]}