Sox9

Alternative sox9 symbols. Other entities represented in this entry:. Cytogenetic location: 17q SOX9 is a transcription factor essential for both sex and skeletal development, sox9.

Federal government websites often end in. The site is secure. The transcription factor Sox9 was first discovered in patients with campomelic dysplasia, a haploinsufficiency disorder with skeletal deformities caused by dysregulation of Sox9 expression during chondrogenesis. Since then, its role as a cell fate determiner during embryonic development has been well characterized; Sox9 expression differentiates cells derived from all three germ layers into a large variety of specialized tissues and organs. However, recent data has shown that ectoderm- and endoderm-derived tissues continue to express Sox9 in mature organs and stem cell pools, suggesting its role in cell maintenance and specification during adult life. The versatility of Sox9 may be explained by a combination of post-transcriptional modifications, binding partners, and the tissue type in which it is expressed. Considering its importance during both development and adult life, it follows that dysregulation of Sox9 has been implicated in various congenital and acquired diseases, including fibrosis and cancer.

Sox9

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. During development, progenitors simultaneously activate one lineage while silencing another, a feature highly regulated in adult stem cells but derailed in cancers. Equipped to bind cognate motifs in closed chromatin, pioneer factors operate at these crossroads, but how they perform fate switching remains elusive. Here we tackle this question with SOX9, a master regulator that diverts embryonic epidermal stem cells EpdSCs into becoming hair follicle stem cells. Combining epigenetic, proteomic and functional analyses, we interrogate the ensuing chromatin and transcriptional dynamics, slowed temporally by the mature EpdSC niche microenvironment. We show that as SOX9 binds and opens key hair follicle enhancers de novo in EpdSCs, it simultaneously recruits co-factors away from epidermal enhancers, which are silenced. Unhinged from its normal regulation, sustained SOX9 subsequently activates oncogenic transcriptional regulators that chart the path to cancers typified by constitutive SOX9 expression. From development to malignancy, cells face decisions of fate determination. Governing the reprogramming from one fate to another, pioneer factors are transcription factors that can recognize and access their cognate binding motifs in compacted and repressed chromatin 1. In vitro studies have shown that when a pioneer factor binds, it displaces the nucleosome, permitting the opening and remodelling of the chromatin landscape to change gene expression 2 , 3.

Since then, sox9, its role as a cell fate determiner during embryonic development has been well characterized; Sox9 expression differentiates sox9 derived from all three germ layers into a large variety of specialized tissues and organs.

The process starts when the transcription factor testis determining factor encoded by the sex-determining region SRY of the Y chromosome activates SOX-9 activity by binding to an enhancer sequence upstream of the gene. Activation of FGF9 by SOX-9 starts vital processes in male development, such as the creation of testis cords and the multiplication of Sertoli cells. SOX-9 is a target of the Notch signaling pathway , as well as the Hedgehog pathway , [13] and plays a role in the regulation of neural stem cell fate. In vivo and in vitro studies show that SOX-9 negatively regulates neurogenesis and positively regulates gliogenesis and stem cell survival. Mutations lead to the skeletal malformation syndrome campomelic dysplasia , frequently with autosomal sex-reversal [6] and cleft palate.

Federal government websites often end in. The site is secure. SOX9 is a pivotal transcription factor in chondrocytes, a lineage essential in skeletogenesis. Its mandatory role in transactivating many cartilage-specific genes is well established, whereas a pioneer role in lineage specification, which along with transactivation defines master transcription factors, remains elusive. Abundant, but yet incomplete evidence exists that intricate molecular networks control SOX9 activity during the multi-step chondrogenesis pathway. They include a highly modular genetic regulation, posttranscriptional and posttranslational modifications, and varying sets of functional partners.

Sox9

Official websites use. Share sensitive information only on official, secure websites. The SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. 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.

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Wang H. The proband had 46,XY true hermaphroditism with ambiguous external genitalia. Federal government websites often end in. Identification of the cell lineage at the origin of basal cell carcinoma. Apr 12 ; 74 — Kim et al. DD - Regulation of Mammalian Cells. As noted earlier, several campomelic dysplasia translocation and inversion cases have been described with breakpoints outside the coding region, mapping to locations more than kb proximal to SOX9. Sudbeck, P. The roles of Sox9 in adult tissues To maintain homeostasis of an adult organ, either in the physiological state or a regenerative state after injury, an orchestrated mechanism ensures correct cell type and tissue architecture.

Astrocytes have in recent years become the focus of intense experimental interest, yet markers for their definitive identification remain both scarce and imperfect.

The roles of Sox9 in mesoderm development Sox9 in chondrogenesis and skeletal development During chondrogenesis and endochondral ossification, mesenchymal cells condense and differentiate into chondrocytes in a pattern that will define the eventual shape of the skeletal elements. Shuttling of SOX proteins. PLOS Biology. The 17q breakpoint mapped approximately 1. Translocation affecting sonic hedgehog genes in basal-cell carcinoma. The Sox9 proximal promoter shows moderately high nucleotide similarity between mouse and human. In contrast, all of the mesodermal skeletal elements and intramembranous bones were essentially conserved. Passeron et al. Gonen et al. Genes Dev. Genes Dev.