Somatic sex determination (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none XX gonadOvaryLeydig cellSteroidigenesisGenital ridgeZFPM2WT1GATA4DHHCTNNB1FOXL2SOX9SOX9FOXL2AMHWNT4RSPO1GATA4NR5A1WT1SOX8SRYNR5A1SOX9NR5A1FGF9PTGDSDMRT1SOX9SOX8NR5A1SteroidigenesisTestisXY gonadName: Somatic sex determinationOrganism: Homo sapiens


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

Image:Curated.pngApproved version
Image:Wplogo_31.pngCommunity: Rare Diseases
Image:MissingXref.pngAnnotate nodes

Ontology Terms

Disease : Joubert syndrome
Cell Type : ciliated cell
 

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
136147
Approved
RARE
view00:06, 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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
AMHGeneProductENSG00000104899 (Ensembl)
CTNNB1GeneProduct1499 (Entrez Gene)
DHHGeneProductENSG00000139549 (Ensembl)
DMRT1GeneProductENSG00000137090 (Ensembl)
FGF9GeneProductENSG00000102678 (Ensembl)
FOXL2GeneProductENSG00000183770 (Ensembl)
GATA4GeneProductENSG00000136574 (Ensembl)
Genital ridgeQ1257300 (Wikidata)
Leydig cellQ636846 (Wikidata)
NR5A1GeneProductENSG00000136931 (Ensembl)
OvaryQ9631 (Wikidata)
PTGDSGeneProductENSG00000107317 (Ensembl)
RSPO1GeneProductENSG00000169218 (Ensembl)
SOX8GeneProductENSG00000005513 (Ensembl)
SOX9GeneProductENSG00000125398 (Ensembl)
SRYGeneProductENSG00000184895 (Ensembl)
SteroidigenesisPathway
TestisQ9384 (Wikidata)
WNT4GeneProductENSG00000162552 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)
ZFPM2GeneProduct23414 (Entrez Gene)

Annotated Interactions

No annotated interactions

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