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However, the factors and underlying mechanisms involving meiotic progression remain largely unknown, especially in humans. Here, it is first showed that HSF5 is associated with human spermatogenesis. Patients with a pathogenic variant of <jats:italic>HSF5<\/jats:italic> are completely infertile. Testicular histologic findings in the patients reveal rare postmeiotic germ cells resulting from meiotic prophase I arrest. <jats:italic>Hsf5<\/jats:italic> knockout (KO) mice confirms that the loss of HSF5 causes defects in meiotic recombination, crossover formation, sex chromosome synapsis, and sex chromosome inactivation (MSCI), which may contribute to spermatocyte arrest at the late pachytene stage. Importantly, spermatogenic arrest can be rescued by compensatory HSF5 adeno\u2010associated virus injection into KO mouse testes. Mechanistically, integrated analysis of RNA sequencing and chromatin immunoprecipitation sequencing data revealed that HSF5 predominantly binds to promoters of key genes involved in crossover formation (e.g., <jats:italic>HFM1<\/jats:italic>, <jats:italic>MSH5<\/jats:italic> and <jats:italic>MLH3<\/jats:italic>), synapsis (e.g., <jats:italic>SYCP1<\/jats:italic>, <jats:italic>SYCP2<\/jats:italic> and <jats:italic>SYCE3<\/jats:italic>), recombination (<jats:italic>TEX15<\/jats:italic>), and MSCI (<jats:italic>MDC1<\/jats:italic>) and further regulates their transcription during meiotic progression. Taken together, the study demonstrates that HSF5 modulates the transcriptome to ensure meiotic progression in humans and mice. These findings will aid in genetic diagnosis of and potential treatments for male infertility.<\/jats:p>","DOI":"10.1002\/advs.202402412","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T09:34:23Z","timestamp":1719999263000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["HSF5 Deficiency Causes Male Infertility Involving Spermatogenic Arrest at Meiotic Prophase I in Humans and Mice"],"prefix":"10.1002","volume":"11","author":[{"given":"Mohan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Obstetrics\/Gynecology Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital Sichuan University  Chengdu 610041 China"},{"name":"Department of Biotherapy Cancer Center and State Key Laboratory of Biotherapy West China Hospital Sichuan University  Chengdu 610041 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