{"doi":"10.1242/dev.204636","title":"Genetic requirement for <i>Esrp1</i> and <i>Esrp2</i> in vertebrate pituitary morphogenesis","abstract":"The pituitary gland produces several hormones that regulate growth, metabolism, stress response, reproduction and homeostasis. Congenital hypopituitarism is a deficiency in one or more pituitary hormones and encompasses a spectrum of clinical conditions. The pituitary has a complex embryonic origin, with the oral ectoderm contributing the anterior lobe, and the neural ectoderm generating the posterior lobe. Pituitary abnormalities and growth deficiencies are associated with cleft palate; however, the developmental genetic connection between pituitary and orofacial cleft malformations remains to be determined. The epithelial RNA splicing regulators Esrp1 and Esrp2 (Esrp1/2) are required for orofacial development in zebrafish, mice and humans, and loss of function of these genes results in a cleft palate. Here, we present a detailed developmental analysis of the genetic requirement for Esrp1/2 in pituitary morphogenesis in mouse and zebrafish. Further, we describe an individual with cleft palate and hypopituitarism who harbors a nucleotide variant in the RNA-binding domain of ESRP2. The discovery of this key function for Esrp1/2 in pituitary formation has significant fundamental and clinical implications for understanding congenital hypopituitarism and craniofacial anomalies.","journal":"Development","year":2025,"id":547812,"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":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.95,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1195371,"name":"Sogand Schäfer","orcid":"0000-0001-5877-5931","position":1,"is_corresponding":false},{"id":1441042,"name":"Ariella S. Richman","orcid":null,"position":2,"is_corresponding":false},{"id":509605,"name":"Peng Wang","orcid":"0000-0002-8838-682X","position":3,"is_corresponding":false},{"id":1440588,"name":"Mohamed Jawed Ahsan","orcid":"0000-0002-6919-5489","position":4,"is_corresponding":false},{"id":1441043,"name":"Lisa Tsay","orcid":null,"position":5,"is_corresponding":false},{"id":291855,"name":"Kai Wang","orcid":"0000-0002-5585-982X","position":6,"is_corresponding":false},{"id":339252,"name":"Eric C. Liao","orcid":"0000-0001-6385-7448","position":7,"is_corresponding":false},{"id":505030,"name":"Shannon H. Carroll","orcid":"0009-0008-8577-9012","position":0,"is_corresponding":true}],"reference_count":54,"raw_metadata":null,"created_at":"2026-07-19T02:53:53.962932Z","pmid":"41111330","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":[]}