{"doi":"10.1101/2021.04.27.441659","title":"The combined action of CTCF and its testis-specific paralog BORIS is essential for spermatogenesis","abstract":"ABSTRACT CTCF is a key organizer of the 3D genome. Its specialized paralog, BORIS, heterodimerizes with CTCF but is expressed only in male germ cells and in cancer states. Unexpectedly, BORIS-null mice have only minimal germ cell defects. To understand the CTCF-BORIS relationship, mouse models with varied CTCF and BORIS levels were generated. Whereas Ctcf + / + Boris + / + , Ctcf + /- Boris + / + , and Ctcf + / + Boris -/- males are fertile, Ctcf + /- Boris -/- (Compound Mutant; CM) males are sterile. Testes with combined depletion of both CTCF and BORIS show reduced size, defective meiotic recombination, increased apoptosis, and malformed spermatozoa. Although CM germ cells exhibit only 25% of CTCF WT expression, chromatin binding of CTCF is preferentially lost from CTCF-BORIS heterodimeric sites. Furthermore, CM testes lose the expression of a large number of spermatogenesis genes and gain the expression of developmentally inappropriate genes that are “toxic” to fertility. Thus, a combined action of CTCF and BORIS is required to both repress pre-meiotic genes and activate post-meiotic genes for a complete spermatogenesis program.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2021,"id":215413,"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":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9522,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":702184,"name":"Elena M. Pugacheva","orcid":"0000-0001-9693-9853","position":1,"is_corresponding":false},{"id":702185,"name":"Sungyun Kang","orcid":"0000-0003-0860-9729","position":2,"is_corresponding":false},{"id":702186,"name":"Claudia Fabiola Méndez-Catalá","orcid":"0000-0003-3444-1085","position":3,"is_corresponding":false},{"id":447796,"name":"Alexander L. Kovalchuk","orcid":"0000-0003-2761-0442","position":4,"is_corresponding":false},{"id":79888,"name":"Alexander Strunnikov","orcid":"0000-0002-9058-2256","position":5,"is_corresponding":false},{"id":702187,"name":"Dmitri Loukinov","orcid":"0000-0002-4438-3424","position":6,"is_corresponding":false},{"id":208747,"name":"Jeannie T. Lee","orcid":"0000-0001-7786-8850","position":7,"is_corresponding":false},{"id":65898,"name":"Victor V. Lobanenkov","orcid":"0000-0001-6665-3635","position":8,"is_corresponding":false},{"id":232130,"name":"Samuel Rivero-Hinojosa","orcid":"0000-0002-3595-8273","position":0,"is_corresponding":true}],"reference_count":97,"raw_metadata":null,"created_at":"2026-07-18T23:52:55.971300Z","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":[]}