What does SOX9 turn on?
SOX9 (SRY-Related HMG Box Gene 9) It plays several roles in the sex-determining pathway, namely, to activate AMH, FGF9, and PTGDS and to maintain its own expression.
What is the role of SOX9?
The SOX9 protein is especially important for development of the skeleton and plays a key role in the determination of sex before birth. The SOX9 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes, particularly those that control skeletal development and sex determination.
Where is SOX9 found?
SOX9 sits in a gene desert on 17q24 in humans. Deletions, disruptions by translocation breakpoints and a single point mutation of highly conserved non-coding elements located > 1 Mb from the transcription unit on either side of SOX9 have been associated with Pierre Robin Sequence, often with a cleft palate.
What regulates SOX9?
TGF-β, BMPs, and/or hedgehog signaling positively regulate SOX9 expression during the initial stages of chondrogenic differentiation.
Do females have SOX9 gene?
In females, the absence of Sry leads to the disappearance of the cytoplasmic pool of SOX9 and transcription of Sox9 ceases. This allows for the stabilisation of β-catenin, which is essential for ovarian formation [32] and expression of the ovarian genes Foxl2 and Wnt4. Wnt4 is present in both XX and XY gonads at E11.
Is SOX9 a protein?
SOX9 (SRY-Box Transcription Factor 9) is a Protein Coding gene. Diseases associated with SOX9 include Campomelic Dysplasia and 46,Xy Sex Reversal 10. Among its related pathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Signaling by Wnt.
Do females have SOX9?
In females, the absence of Sry leads to the disappearance of the cytoplasmic pool of SOX9 and transcription of Sox9 ceases. This allows for the stabilisation of β-catenin, which is essential for ovarian formation [32] and expression of the ovarian genes Foxl2 and Wnt4.
Which transcription factor that induces the differentiation of a osteoblast?
Runx2
In osteogenic differentiation, Runx2 is a key transcription factor that elevates the osteoblast differentiation and inhibits the adipogenic and chondrogenic differentiation. The expression of Runx2 is regulated by many signaling pathways such as the Wnt, BMP, and Notch signaling pathways.
Is SOX9 on the Y chromosome?
SOX9 is a transcription factor essential for both sex and skeletal development. Transient expression of the Y chromosome gene SRY (480000) initiates a cascade of gene interactions orchestrated by SOX9, leading to the formation of testes from bipotential gonads (summary by Cox et al., 2011).
What chromosome is SOX9?
Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man.
What does DMRT1 gene do?
DMRT1 is involved in sex determination and gonadal development across a broad range of species. DMRT proteins are transcription factors that share a DNA-binding domain that is similar to a zinc finger, called the DM domain.
What is the pathophysiology of SOX9?
SOX9 is another member of the HMG family that initially was isolated by virtue of its homology with SRY. SOX9 mutations cause campomelic dysplasia, an autosomal dominant form of dwarfism associated with 46, XY sex reversal in most but not all male offspring ( 75, 76 ).
What is Sox9 dysplasia?
In humans, heterozygous mutation in the SOX9 gene results in autosomal sex reversal and campomelic dysplasia, which affects the skeletal formation and testis development [24]. Inactivation of the Sox9 gene in mouse limb buds before mesenchymal condensation results in a complete absence of cartilage formation.
What is the function of SOX9?
SOX9 acts as a marker and maintenance factor for pancreatic progenitor cells. It is initially expressed throughout the early pancreatic epithelium, then later becomes restricted to trunk progenitors and mature ducts, eventually giving rise to all pancreatic cell types.
Where is Sox9 expressed in the testes?
SOX9 is expressed at low levels in the indifferent gonad of both sexes. Following the initiation of male sex determination by SRY, Sox9 expression is dramatically upregulated in the testes, but essentially disappears in the ovaries, suggesting that SOX9 plays key roles in the male developmental pathway ( 77, 78 ).
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