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Mouse modeling of familial human SYCE1 c.197-2A>G splice site mutation leads to meiotic recombination failure and non-obstructive azoospermia.

Molecular human reproduction - 17 Jan 2025

García-Martínez Omar Ignacio, Geisinger Adriana, de Los Santos Eliana, Santiñaque Federico F, Folle Gustavo A, Pórfido Jorge Luis, Meikle María Noel, Schlapp Geraldine, Crispo Martina, Benavente Ricardo, Rodríguez-Casuriaga Rosana

Abstract excerpt

Infertility affects a considerable number of couples at reproductive age, with an incidence of 10-15%. Approximately 25% of cases are classified as idiopathic infertility. Often, errors during the meiotic stage appear to be related to idiopathic infertility. A crucial component during the first meiotic prophase is the synaptonemal complex (SC), which plays a fundamental role in homologous chromosome pairing and...

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PMID: 39909494
DOI: 10.1093/molehr/gaaf002

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Mouse modeling of familial human SYCE1 c.197-2A>G splice site mutation leads to meiotic recombination failure and non-obstructive azoospermia.PMID 39909494Read ↗

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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.Semantic proximity Read ↗

A rare frameshift mutation inSYCP1is associated with human male infertilitySemantic proximity Read ↗

Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.Semantic proximity Read ↗

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.Semantic proximity Read ↗

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertilitySemantic proximity Read ↗

Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility.Semantic proximity Read ↗

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.Semantic proximity Read ↗

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility.Semantic proximity Read ↗

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