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A genome-wide linkage scan and exome sequencing revealed a homozygous variant in the gene for the thyroid receptor interacting protein 13 (TRIP13), c.518G\u02c3A (p.Arg173Gln), affecting an evolutionary highly conserved amino acid within an ATP binding motif. Just recently, compound heterozygosity for this variant was described in a Chinese proband as pathogenic, confirming that the homozygous mutation is causative for the oocyte arrest. The <jats:italic>TRIP13<\/jats:italic> gene and the orthologous yeast <jats:italic>pch2<\/jats:italic> gene are, amongst others, involved in a meiotic checkpoint control. This checkpoint defect is obviously responsible for the premature condensation of the sperm chromosomes. <jats:italic>TRIP13<\/jats:italic> and <jats:italic>pch2<\/jats:italic> are involved in meiotic recombination. To exclude that it is involved in reciprocal somatic exchanges, we analyzed the rate of sister chromatid exchanges (SCEs) in the proband\u00b4s lymphoblastoid cells. Obviously, <jats:italic>TRIP13<\/jats:italic> is not involved in this type of somatic recombination. Moreover, we tested whether <jats:italic>TRIP13<\/jats:italic> can complement the defect of the yeast <jats:italic>pch2<\/jats:italic> gene. Using a yeast deletion strain lacking <jats:italic>pch2,<\/jats:italic> we integrated plasmids containing either the yeast <jats:italic>pch2<\/jats:italic> or the human <jats:italic>TRIP13<\/jats:italic> gene, both harboring the wild-type or the mutant allele and assessed the crossingover rate between marker genes <jats:italic>lys2<\/jats:italic> and <jats:italic>leu2<\/jats:italic> as a measure of complementation. Evidence is presented that the human plasmids, unexpectedly also that with the mutation, could complement the <jats:italic>pch2<\/jats:italic> deficient yeast strain, underlining that the evolutionary conservation at the molecular level obviously extends to the functional level. <\/jats:p>","DOI":"10.1186\/s13039-025-00722-7","type":"journal-article","created":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T05:53:06Z","timestamp":1753249986000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes"],"prefix":"10.1186","volume":"18","author":[{"given":"Michal","family":"Schweiger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esen","family":"G\u00fcm\u00fcsl\u00fc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Krebsova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Raab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Lang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidemarie","family":"Neitzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,7,23]]},"reference":[{"key":"722_CR1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 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