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Previous studies have linked biallelic mutations in the <jats:italic>PATL2<\/jats:italic> gene to OMD, yet the underlying mechanism remains largely unknown.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>This study uncovers three novel mutations (c.1201G\u2009&gt;\u2009T, c.1284delA and c.1613\u2009+\u20092_1613\u2009+\u20093insGT) and three reported mutations (c.1204\u00a0C\u2009&gt;\u2009T, c.1271T\u2009&gt;\u2009C, c.223\u2009\u2212\u200914_223-2delCCCTCCTGTTCCA) in the <jats:italic>PATL2<\/jats:italic> gene across five unrelated individuals exhibiting OMD, oocyte death, and early embryonic arrest. RNA sequencing revealed that <jats:italic>PATL2<\/jats:italic> mutations decreased mRNA storage in human germinal vesicle (GV) oocytes and impeded mRNA decay during maturation and in early embryos. We demonstrate that PATL2 interacts with CPEB1 and TUT7 in human oocytes to maintain mRNA homeostasis. Additionally, we observed a reduction in <jats:italic>CCNB1<\/jats:italic> and <jats:italic>CCNE1<\/jats:italic> mRNA levels in <jats:italic>PATL2<\/jats:italic>-mutant GV oocytes, which may be linked to GV arrest. Employing both wild-type and mutated PATL2<jats:sup>V401F\/R402W<\/jats:sup> variants, we characterized the protein interactome of PATL2, identifying disruptions of PATL2<jats:sup>V401F\/R402W<\/jats:sup> variants predominantly affecting cell cycle-related proteins, including CDC23, APC1 and MAD2L1. PATL2\u2019s interaction with and stabilization of CDC23 in oocytes may elucidate the mechanisms behind the mutation-induced MI arrest. PALT2 is required for the efficient mRNA translation and it maintains the protein level of CDC23, APC1 and MAD2L1 in mouse GV oocyte.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>PATL2 plays a critical role in regulating mRNA accumulation and decay in human oocytes, potentially through interactions with CPEB1 and TUT7, respectively. Mutations in PATL2 lead to oocyte meiosis defects by affecting the mRNA accumulation, mRNA translation, and direct binding to and stabilizing proteins related to cell cycle regulation, such as CCNB1 and CDC23. This study expands the mutational spectrum of <jats:italic>PATL2<\/jats:italic> and provides new insights into the molecular mechanisms underlying <jats:italic>PATL2<\/jats:italic> mutation-associated oocyte maturation disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13578-024-01341-2","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T10:18:45Z","timestamp":1735640325000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation"],"prefix":"10.1186","volume":"14","author":[{"given":"Yin-Li","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanhong","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiamin","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengru","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peipei","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siya","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Yi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Rong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6982-445X","authenticated-orcid":false,"given":"Xiaomei","family":"Tong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8044-6237","authenticated-orcid":false,"given":"Songying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"issue":"3","key":"1341_CR1","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1093\/humupd\/dmg021","volume":"9","author":"T Ebner","year":"2003","unstructured":"Ebner T, Moser M, Sommergruber M, Tews G. 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