Evidence map›Paper›PMID 42363649›Full record

ArticleGenes to cells : devoted to molecular & cellular mechanisms2026

Strain-Dependent Functional Variation of a Sex Specific Sox9 Enhancer.

Iku Tsuchiya, Atsumi Tsuji-Hosokawa, Suzune Furuhashi, Karin Sugiyama, Yuya Ogawa, Aki Oishi, Miho Terao, Shuji Takada

Abstract read
In one paragraph

Article in Genes to cells : devoted to molecular & cellular mechanisms, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Strain-Dependent Functional Variation of a Sex Specific Sox9 Enhancer.Genes to cells : devoted to molecular & cellular mechanisms · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Iku TsuchiyaDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Atsumi Tsuji-HosokawaDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Suzune FuruhashiDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Karin SugiyamaDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Yuya OgawaDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Aki OishiDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Miho TeraoDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Shuji TakadaDepartment of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.

Funding

JSPS KAKENHI Grant 24K11036National Center for Child Health and Development 2023B-1National Center for Child Health and Development 29-11
6 · The paper itself

Abstract

In mammalian sex differentiation, Sox9 expression in undifferentiated gonads determines male development. Sox9 is regulated by multiple enhancers, of which Enh13/mXYSRa is the most critical. Disruption of the GATA4 binding site in Enh13/mXYSRa causes XY sex reversal in the C57BL/6J (B6J) strain, but not in the mixed genetic background of B6J × DBA/2. To clarify the cause of these differences, mice with the same mutation were generated in DBA/2. Homozygous mutants developed as XY males. We hypothesized that the phenotypic differences between strains were due to functional differences of another enhancer. Mice lacking TESCO and carrying a mutation in the GATA4 binding site were generated and analyzed. The mutants developed according to their chromosomal sex despite reduced Sox9 expression. These findings imply that the DBA/2 genetic background contains factors preventing Sox9 expression from falling below the threshold required for male development. Bulk RNA-seq analysis of fetal gonads during sex determination identified strain-dependent differences in intermediate mesoderm development and protease inhibition pathways; the study also revealed that the expression of Sox8 has a redundant role in Sertoli cell differentiation to that of Sox9 in male embryonic gonads. These differences may contribute to the phenotypic variation observed between strains.

Indexed as

Enhancer Elements, GeneticSOX9 Transcription FactorAnimalsBinding SitesFemaleGATA4 Transcription FactorGene Expression Regulation, DevelopmentalMaleMiceMice, Inbred C57BLMice, Inbred DBAMutationSertoli CellsSex Determination ProcessesSex DifferentiationSOXE Transcription FactorsGata4 protein, mouseGATA4 Transcription FactorSox8 protein, mouseSox9 protein, mouseSOX9 Transcription FactorSOXE Transcription Factors

Identifiers

PMID42363649
PMCPMC13380362

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.