| SYCE1-related gametogenic failure: evidence matrix (retrieval-blocked) |  |  |  |  |  |  |  |
|---|---|---|---|---|---|---|---|
| Source identifier (PMID) | Year | Evidence type | Claim tested | Key finding as stated in seed curation (verbatim/paraphrased) | Supports which step in causal chain | Confidence | Limitations |
| 25062452 | 2014 | human genetics | Whether biallelic SYCE1 loss-of-function variants are associated with primary ovarian insufficiency/primary amenorrhea in humans | Homozygous nonsense variant c.613C>T identified in both affected sisters; parents and three brothers heterozygous; unaffected sister did not carry the mutation. Seed curation also states these results highlight the importance of the synaptonemal complex and meiosis in ovarian function. | Biallelic SYCE1 variant -> Mendelian disease association in 46,XX individuals; indirect support for meiotic failure mechanism | Low | Not retrieved by tool; exact phenotypic details, segregation statistics, and wording need full-text verification |
| 32402064 | 2020 | mouse model | Whether the familial human SYCE1 mutation causes infertility through loss of protein/transcript and defective homologous chromosome synapsis | No SYCE1 protein detected in homozygous mutants and Syce1 transcript highly diminished, suggesting transcript degradation; results strongly support causative role of the mutation for POI phenotype, with mechanism related to defects in homologous chromosome synapsis. | Variant -> absent/reduced SYCE1 -> synaptonemal complex/synapsis defect -> infertility/germ-cell failure | Moderate | Not retrieved by tool; model-organism inference may not capture full human sex-specific phenotype; checkpoint/apoptosis details need verification |
| 34718620 | 2021 | in vitro / human genetics cohort | Whether SYCE1 variants disrupt interactions with SYCP1 or C14ORF39/SIX6OS1 and thereby impair synaptonemal complex assembly and meiosis | Variations in SYCE1 disrupted its interaction with SYCP1 or C14ORF39, both of which affected SC assembly and meiosis; study identified novel pathogenic variations of C14ORF39 and SYCE1 in sporadic patients with POI or NOA. | Damaging SYCE1 variant -> disrupted binding partners (SYCP1, C14ORF39/SIX6OS1) -> central element assembly failure -> meiotic defect | Moderate | Not retrieved by tool; exact variant list, assay systems, and patient-level segregation/phenotypes need verification |
| 35718780 | 2022 | human genetics / histology | Whether SYCE1 copy-number variants in men with NOA are associated with meiotic arrest at pachytene stage | H&E and IF staining demonstrated spermatogenesis arrested at pachytene stage in two NOA patients, suggesting two novel CNVs within SYCE1 could lead to meiotic defect and NOA. | SYCE1 CNV/LoF -> homologous synapsis/meiotic progression failure -> pachytene arrest -> 46,XY non-obstructive azoospermia | Low | Not retrieved by tool; CNV breakpoints, zygosity, exclusion of other causes, and direct mechanistic assays need verification |


*Table: This table organizes the four seed publications into a curation-oriented evidence matrix. It is useful for tracking which mechanistic steps are directly supported versus currently retrieval-blocked and needing curator verification.*