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. Author manuscript; available in PMC: 2020 Dec 1.
Published in final edited form as: Curr Opin Cell Biol. 2019 Aug 2;61:39–47. doi: 10.1016/j.ceb.2019.07.008

Figure 3.

Figure 3

Current knowledge of the complex modular organization of SOX9 cis-acting elements. The domain topologically associated with SOX9 spans 1.9 Mb upstream and 0.5 Mb downstream of the gene. The SOX9 proximal region is believed to be a hub for signaling pathways. The distal regions house at least a dozen and likely more enhancers driving gene expression in various tissues, chondrocyte differentiation stages, and cartilage anatomical sites. The upstream region also houses ROCR, SOX9-regulating IncRNAs. Chromosomal translocations, microdeletions and duplications in the distal regions cause chondrodysplasias (CMPD, ACMPD, and PRS) and disorders of sex development (DSD) with a severity generally proportional to their proximity to the SOX9 gene body.