Disease relevance of SOX3

• Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation [1].

High impact information on SOX3

• The oncogenicity of Sox3 is correlated with nuclear localization and transcriptional regulatory activity; mutants containing deletions in the HMG box or the transactivation domain fail to induce foci of transformation [2].
• Ectopic expression of Sox3 causes oncogenic transformation of chicken embryo fibroblasts (CEFs) [2].
• After tight association of the optic vesicle (around stage 10-11, 40 hours after egg incubation), expression of Sox2 and Sox3 is activated in the vesicle-facing ectoderm at stage 12 (44 hours) [3].
• Different combinations of signals are responsible for different aspects of this early transient induction: FGF initiates expression of Sox3 and ERNI, retinoic acid can induce Cyp26A1 and only a combination of low levels of FGF8 together with Wnt- and BMP-antagonists can induce Otx2 [4].
• SOX3 expression was observed prior to clear SOX9 expression and was up-regulated in both sexes at the onset of gonadal sex differentiation (but declined later in development) [5].

Anatomical context of SOX3

• These data suggest that deregulation of SOX3 target genes and inappropriate canonical Wnt signaling in central nervous system (CNS) progenitors may also contribute to dysfunction of the hypothalamic-pituitary axis in XH patients [1].

Other interactions of SOX3

• Dynamic expression of chicken Sox2 and Sox3 genes in ectoderm induced to form neural tissue [6].
• Semi-quantitative RT-PCE analysis of the expression of several transcription factors indicated that Sox1 and Sox3 were upregulated in parallel with delta1-crystallin mRNA in form-deprived eyes [7].

References