Disease relevance of SOX8

• Sox8 is also expressed in scattered cells in the cerebellar tumour, medulloblastoma [1].

Psychiatry related information on SOX8

• Thus, SOX8 is a good candidate gene contributing to the mental retardation phenotype seen in ATR-16 patients [2].

High impact information on SOX8

• To analyze the extent of functional equivalence between the two Sox proteins, we employed targeted mutagenesis to replace Sox10 with Sox8 in the mouse [3].
• The ability of Sox8 to rescue the defects in enteric nervous system development and oligodendrocyte differentiation of Sox10-deficient mice was limited [3].
• Whereas development of glial cells and neurons in the sensory and sympathetic parts of the peripheral nervous system was almost normal when Sox10 was replaced by Sox8, melanocyte development was as defective as in Sox10-deficient mice [3].
• SOX8 and SOX9 appear to have arisen from a common ancestral gene and may have retained some common functions during sexual development [4].
• Our results show that Sox8 and Sox9 are the most precocious markers of limb cartilage, and their induction is independent and precedes the activation of BMP signaling [5].

Biological context of SOX8

• The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome [2].
• The latter two possess a C-terminal transactivation domain, whereas in SOX8, this domain is located in the central part of the protein [2].
• SOX8 protein is able to bind to canonical SOX target DNA sequences and activate transcription in vitro through two separate trans -activation regions [6].
• Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours [1].
• SOX8 is broadly expressed during development and is located on human chromosome 16p and within the t-complex on mouse chromosome 17, in the vicinity of two mutations t(w18) and t(h20) [7].

Anatomical context of SOX8

• Sox10 appears also to cooperate with Sox9 and Sox8 in the establishment of the digit cartilages [5].
• In summary, our findings suggest that Sox8, Sox9, and Sox10 have a cooperative function conferring chondrogenic competence to limb mesoderm in response to BMP signals [5].
• We describe the expression pattern of Sox8, Sox9 and Sox10 during the development of the chick embryo heart [8].
• We show that the expression of Sox8, Sox9 and Sox10 in the developing heart correlates with heart septation and with the differentiation of the connective tissue of the valve leaflets [8].
• We have analyzed electroreceptor development in the lesser spotted catshark (Scyliorhinus canicula) and show that Sox8 and HNK1, two markers of the neural crest lineage, selectively mark sensory cells in ampullary organs [9].

References