Bibliographic record
Abstract
Juvenile-type granulosa cell tumors (GCT) originate in the somatic tissues that surround the germ cells of the ovarian follicle in children and young women. Unlike Adult-type GCT that share a common, acquired mutation in the FOXL2 gene, the genetic determinants for juvenile-type GCT susceptibility are not so well defined. A spontaneous, early-onset GCT phenotype in SWR inbred female mice has revealed multiple Gct loci: Gct1 on Chromosome (Chr) 4 initiates the tumorigenic program; Gct4 on Chr X modifies trait penetrance and Gct6 on Chr X is a suppressor of GCT initiation. The Gct6 locus has been mapped to a 1.02 million base pair region with over 20 annotated genes. Two complementary approaches were taken to help prioritize Gct6 gene candidates. First, a congenic strain approach was taken to determine the tumor suppressor phenotype of the Gct6C57 allele in SWR.C57-X females. Second, a whole-locus capture and Next Generation Sequencing (NGS) protocol was applied to identify all nucleotide variations between SWR (tumor-susceptible SW) and Castaneus (CAST; tumor-resistant CA) alleles vs. the C57BL/6J (C57) genome. The congenic strain data supported the hypothesis that a common Gct6 tumor suppressor allele in C57 and CAST genomes was distinct from the permissive Gct6SW allele, which reduced the prioritized list of NGS variants (SNPs, INDELs) to 746. Priority was given to non-synonymous variants identified in the coding region of 5 candidate genes: BC065397, Esx1, Slc25a53, Tmsb15b1 and Tmsb15l. Sanger sequencing confirmed the 5 non-synonymous variants between C57 and SWR strains and identified a novel 28 bp deletion in the coding region of the Slc25a53 gene. Allele association analysis between 5 Gct6 permissive and 2 Gct6 suppressive strains demonstrated that the 5 non-synonymous variants were not conserved between permissive strains. However, all 5 permissive strains tested (SWR, SJL/J, PL/J, BUB/BnJ, ST/bJ) had deletion mutations with inferred deleterious frameshift effect in the Slc25a53 gene when compared to the GC tumor suppressive strains (CAST and C57), making Slc25a53 a promising candidate for shared identity with Gct6.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.005 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".