Somatic sex determination (WP4814)

Homo sapiens

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This pathway describes the sex determination in a fetus. For the male development the SRY gene plays an important role, leading to the SOX9 expression which will then stimulate AMH expression and testis development. In adults DMRT1 and SOX9 inhibit the FOXL2 gene, maintaining the male sex determination. For the female development the WNT4 and RSPO1 signaling pathways lead to beta-catenin accumulation which inhibits SOX9 and the development of ovaries. In adults, Foxl2 repress Sox9 expression to maintain ovarian identity.

Authors

Je G , Friederike Ehrhart , Eric Weitz , and Kristina Hanspers

Activity

last edited

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Cell Type Ontology

Leydig cell

Disease Ontology

disorder of sexual development

Pathway Ontology

signaling pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
ZFPM2 GeneProduct ncbigene:23414
DHH GeneProduct ensembl:ENSG00000139549
CTNNB1 GeneProduct ncbigene:1499
FOXL2 GeneProduct ensembl:ENSG00000183770
SOX9 GeneProduct ensembl:ENSG00000125398
AMH GeneProduct ensembl:ENSG00000104899
WNT4 GeneProduct ensembl:ENSG00000162552
GATA4 GeneProduct ensembl:ENSG00000136574
SRY GeneProduct ensembl:ENSG00000184895
NR5A1 GeneProduct ensembl:ENSG00000136931
RSPO1 GeneProduct ensembl:ENSG00000169218
WT1 GeneProduct ensembl:ENSG00000184937
SOX8 GeneProduct ensembl:ENSG00000005513
FGF9 GeneProduct ensembl:ENSG00000102678
DMRT1 GeneProduct ensembl:ENSG00000137090
PTGDS GeneProduct ensembl:ENSG00000107317

References

  1. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, et al. Hum Mol Genet. 2016 Aug 15;25(16):3446–53. PubMed Europe PMC Scholia
  2. Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development. Bashamboo A, McElreavey K. Sex Dev. 2016;10(5–6):313–25. PubMed Europe PMC Scholia