Somatic sex determination (Homo sapiens)

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1SteroidogenesisFoetal FemaleGenital RidgeSteroidogenesisFOG2Adult TestisMaleAdult OvaryLeydig cellDHHbeta cateninFOXL2SOX9SOX9FOXL2AMHWNT4GATA4SRYNR5A1RSPO1NR5A1WT1SOX9NR5A1WT1SOX8FGF9DMRT1PTGDSSOX9NR5A1GATA4SOX8


Description

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.

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Quality Tags

Ontology Terms

 

Bibliography

  1. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC; ''A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
  2. Bashamboo A, McElreavey K; ''Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.''; Sex Dev, 2016 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
136147view00:06, 20 December 2024KhanspersOntology Term : 'Leydig cell' added !
136146view18:06, 19 December 2024Khanspersadded xref for CTNNB1
136144view18:01, 19 December 2024Khanspersoverhaul for clarity, added Wikidata nodes, add NR5A1 interaction and reference
116554view12:51, 7 May 2021EweitzModified title
110053view16:06, 15 April 2020FehrhartOntology Term : 'sex differentiation disease' added !
110052view16:05, 15 April 2020FehrhartOntology Term : 'signaling pathway' added !
110051view16:04, 15 April 2020Fehrhartadded reference
109792view05:38, 1 April 2020JenGModified description
109269view12:53, 3 March 2020Fehrhartupdate
109119view22:57, 17 February 2020JenGNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AMHGeneProductENSG00000104899 (Ensembl)
DHHGeneProductENSG00000139549 (Ensembl)
DMRT1GeneProductENSG00000137090 (Ensembl)
FGF9GeneProductENSG00000102678 (Ensembl)
FOXL2GeneProductENSG00000183770 (Ensembl)
GATA4GeneProductENSG00000136574 (Ensembl)
NR5A1GeneProductENSG00000136931 (Ensembl)
PTGDSGeneProductENSG00000107317 (Ensembl)
RSPO1GeneProductENSG00000169218 (Ensembl)
SOX8GeneProductENSG00000005513 (Ensembl)
SOX9GeneProductENSG00000125398 (Ensembl)
SRYGeneProductENSG00000184895 (Ensembl)
WNT4GeneProductENSG00000162552 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)
beta cateninGeneProduct

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4814"
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