Disease relevance of sox9a

• Enzymatically dissociated testicular cells containing germ cells were co-cultured on feeder cells derived from tumor-like testis, which exhibited features characteristic of Sertoli cells such as phagocytic activity and transcription of the Wilms' tumor suppressor wt1 and sox9a genes [1].
• A retrovirus insertion into sox9a disrupted its DNA-binding domain [2].

Psychiatry related information on sox9a

• Besides the lack of overt cartilage differentiation, pharyngeal arch condensations in jef (sox9a) mutants lacked three specific morphogenetic behaviors: the stacking of chondrocytes into orderly arrays, the individuation of pharyngeal cartilage organs and the proper shaping of individual cartilages [2].

High impact information on sox9a

• Chondrocytes failed to stack in sox9a mutants, failed to attain proper numbers in sox9b mutants and failed in both morphogenetic processes in double mutants [3].
• Removal of dlx3b, dlx4b and sox9a genes together also blocks ear development, although a few residual cells form an otic epithelium [4].
• Inhibiting splicing of the sox9a transcript in wild-type embryos with splice site-directed morpholino antisense oligonucleotides produced a phenotype like jef mutant larvae, and caused sox9a transcript to accumulate in the nucleus; this accumulation can serve as an assay for the efficacy of a morpholino independent of phenotype [2].
• These studies show that jef (sox9a) is essential for both morphogenesis of condensations and overt cartilage differentiation [2].
• Likewise, calcein labeling revealed that early bone formation was largely unaffected in jef (sox9a) mutants [2].

Biological context of sox9a

• We have used a genotype-driven screen to isolate a mutation deleting sox9b function, and investigated its phenotype and genetic interactions with a sox9a null mutation [3].
• By contrast, subfunction partitioning between zebrafish co-orthologs of tetrapod genes, such as sox9a and sox9b, can relax pleiotropy and reveal both early and late developmental gene functions [3].
• During embryogenesis, sox9a and sox9b expression patterns are distinct but overlap in some regions of the brain, head skeleton, and fins [5].
• In addition, two transcription factors essential for chondrogenesis, sox9a and runx2b, fail to express within the mesenchymal condensations of the branchial arches [6].

Anatomical context of sox9a

• In adult testes, amh and sox9a were expressed in presumptive Sertoli cells [7].
• We found that the onset of amh expression occurred while gonads were still undifferentiated and sox9a and cyp19a1a were already expressed [7].
• Analysis of dlx2 expression showed that neural crest specification and migration was normal in jef (sox9a) embryos [2].
• In the adults, sox9a is expressed in many tissues including brain, muscle, fin, and testis, whereas sox9b expression is restricted to previtellogenic oocytes of the ovary [5].

Associations of sox9a with chemical compounds

• A mutation induced by ethyl nitrosourea changed a conserved nucleotide at a splice junction and severely reduced splicing of sox9a transcript [2].

Other interactions of sox9a

• Combined loss of Fgf signaling and the three transcription factor genes, dlx3b, dlx4b and sox9a, also completely eliminates all indications of otic cells [4].
• Twelve cell lines were established by single-colony isolation from tumor-like testis-derived ZtA6 cells, and the features characteristic of Sertoli cells such as phagocytic activity and transcription both of their specific genes, sox9a and Wilms' tumor suppressor WT1, and of the vas gene of germ cells were analyzed in the lines [8].
• Expression of sox9a/b correlates well with that of col2a1 in chondrogenic elements [5].

References