Gene Review:
SOX9 - SRY (sex determining region Y)-box 9
Homo sapiens
Synonyms:
CMD1, CMPD1, SRA1, Transcription factor SOX-9
Tolmie,
Ono,
David I. Wilson,
Harley,
Derek A. Mann,
Schmid,
Mansour,
Mertin,
Nishijima,
Ibuki,
Weller,
Fellous,
Iijima,
Cotinot,
Ranganathan,
Kamihira,
Karen Piper Hanley,
Aigner,
Neil A. Hanley,
McDowall,
Ottolenghi,
Pöschl,
Salas-Cortés,
Esaka,
Sarah Sugden,
Miyake,
Yates,
Veitia,
Fiona Oakley,
Argentaro,
Gebhard,
Harley,
Pailhoux,
Bau,
- Toward understanding SOX9 function in chondrocyte differentiation. Lefebvre, V., de Crombrugghe, B. Matrix Biol. (1998)
- Testis determination in mammals: more questions than answers. Veitia, R.A., Salas-Cortés, L., Ottolenghi, C., Pailhoux, E., Cotinot, C., Fellous, M. Mol. Cell. Endocrinol. (2001)
- Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Kwok, C., Weller, P.A., Guioli, S., Foster, J.W., Mansour, S., Zuffardi, O., Punnett, H.H., Dominguez-Steglich, M.A., Brook, J.D., Young, I.D. Am. J. Hum. Genet. (1995)
- Dominance of SOX9 function over RUNX2 during skeletogenesis. Zhou, G., Zheng, Q., Engin, F., Munivez, E., Chen, Y., Sebald, E., Krakow, D., Lee, B. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Meyer, J., Südbeck, P., Held, M., Wagner, T., Schmitz, M.L., Bricarelli, F.D., Eggermont, E., Friedrich, U., Haas, O.A., Kobelt, A., Leroy, J.G., Van Maldergem, L., Michel, E., Mitulla, B., Pfeiffer, R.A., Schinzel, A., Schmidt, H., Scherer, G. Hum. Mol. Genet. (1997)
- Hypoxia promotes the differentiated human articular chondrocyte phenotype through SOX9-dependent and -independent pathways. Lafont, J.E., Talma, S., Hopfgarten, C., Murphy, C.L. J. Biol. Chem. (2008)
- Ectopic SOX9 mediates extracellular matrix deposition characteristic of organ fibrosis. Hanley, K.P., Oakley, F., Sugden, S., Wilson, D.I., Mann, D.A., Hanley, N.A. J. Biol. Chem. (2008)
- Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity. Jiang, S.S., Fang, W.T., Hou, Y.H., Huang, S.F., Yen, B.L., Chang, J.L., Li, S.M., Liu, H.P., Liu, Y.L., Huang, C.T., Li, Y.W., Jang, T.H., Chan, S.H., Yang, S.J., Hsiung, C.A., Wu, C.W., Wang, L.H., Chang, I.S. Clin. Cancer Res. (2010)
- Timing of SOX9 downregulation and female sex determination in gonads of the sea turtle Lepidochelys olivacea. Torres-Maldonado, L., Moreno-Mendoza, N., Landa, A., Merchant-Larios, H. J. Exp. Zool. (2001)
- Sox9 is required for cartilage formation. Bi, W., Deng, J.M., Zhang, Z., Behringer, R.R., de Crombrugghe, B. Nat. Genet. (1999)
- SOX9 directly regulates the type-II collagen gene. Bell, D.M., Leung, K.K., Wheatley, S.C., Ng, L.J., Zhou, S., Ling, K.W., Sham, M.H., Koopman, P., Tam, P.P., Cheah, K.S. Nat. Genet. (1997)
- Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Südbeck, P., Schmitz, M.L., Baeuerle, P.A., Scherer, G. Nat. Genet. (1996)
- Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Morais da Silva, S., Hacker, A., Harley, V., Goodfellow, P., Swain, A., Lovell-Badge, R. Nat. Genet. (1996)
- RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition. Afonja, O., Raaka, B.M., Huang, A., Das, S., Zhao, X., Helmer, E., Juste, D., Samuels, H.H. Oncogene (2002)
- Simple assay method for endocrine disrupters by in vitro quail embryo culture: nonylphenol acts as a weak estrogen in quail embryos. Nishijima, K., Esaka, K., Ibuki, H., Ono, K., Miyake, K., Kamihira, M., Iijima, S. J. Biosci. Bioeng. (2003)
- Effects of potent vitamin D3 analogs on clonal proliferation of human prostate cancer cell lines. de Vos, S., Holden, S., Heber, D., Elstner, E., Binderup, L., Uskokovic, M., Rude, B., Chen, D.L., Le, J., Cho, S.K., Koeffler, H.P. Prostate (1997)
- The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Wright, E., Hargrave, M.R., Christiansen, J., Cooper, L., Kun, J., Evans, T., Gangadharan, U., Greenfield, A., Koopman, P. Nat. Genet. (1995)
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kowk, G., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N. Nature (1994)
- SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Lefebvre, V., Huang, W., Harley, V.R., Goodfellow, P.N., de Crombrugghe, B. Mol. Cell. Biol. (1997)
- Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Sock, E., Pagon, R.A., Keymolen, K., Lissens, W., Wegner, M., Scherer, G. Hum. Mol. Genet. (2003)
- Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Wagner, T., Wirth, J., Meyer, J., Zabel, B., Held, M., Zimmer, J., Pasantes, J., Bricarelli, F.D., Keutel, J., Hustert, E. Cell (1994)
- SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes. Blache, P., van de Wetering, M., Duluc, I., Domon, C., Berta, P., Freund, J.N., Clevers, H., Jay, P. J. Cell Biol. (2004)
- Regulation of SOX9 mRNA in Human Articular Chondrocytes Involving p38 MAPK Activation and mRNA Stabilization. Tew, S.R., Hardingham, T.E. J. Biol. Chem. (2006)
- Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. McDowall, S., Argentaro, A., Ranganathan, S., Weller, P., Mertin, S., Mansour, S., Tolmie, J., Harley, V. J. Biol. Chem. (1999)
- Prostaglandin D2 induces nuclear import of the sex-determining factor SOX9 via its cAMP-PKA phosphorylation. Malki, S., Nef, S., Notarnicola, C., Thevenet, L., Gasca, S., Méjean, C., Berta, P., Poulat, F., Boizet-Bonhoure, B. EMBO J. (2005)
- Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer. Huang, W., Zhou, X., Lefebvre, V., de Crombrugghe, B. Mol. Cell. Biol. (2000)
- SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation. Passeron, T., Valencia, J.C., Bertolotto, C., Hoashi, T., Le Pape, E., Takahashi, K., Ballotti, R., Hearing, V.J. Proc. Natl. Acad. Sci. U.S.A. (2007)
- Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. De Santa Barbara, P., Bonneaud, N., Boizet, B., Desclozeaux, M., Moniot, B., Sudbeck, P., Scherer, G., Poulat, F., Berta, P. Mol. Cell. Biol. (1998)
- Interactions between PIAS proteins and SOX9 result in an increase in the cellular concentrations of SOX9. Hattori, T., Eberspaecher, H., Lu, J., Zhang, R., Nishida, T., Kahyo, T., Yasuda, H., de Crombrugghe, B. J. Biol. Chem. (2006)
- Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9. Südbeck, P., Scherer, G. J. Biol. Chem. (1997)
- Identification of an interaction between SOX9 and HSP70. Marshall, O.J., Harley, V.R. FEBS Lett. (2001)
- Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment. Furumatsu, T., Tsuda, M., Taniguchi, N., Tajima, Y., Asahara, H. J. Biol. Chem. (2005)
- Identification of cis and trans-acting transcriptional regulators in chondroinduced fibroblasts from the pre-phenotypic gene expression profile. Yates, K.E. Gene (2006)
- SOX9-dependent and -independent transcriptional regulation of human cartilage link protein. Kou, I., Ikegawa, S. J. Biol. Chem. (2004)
- SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Sekido, R., Bar, I., Narváez, V., Penny, G., Lovell-Badge, R. Dev. Biol. (2004)
- SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes. Aigner, T., Gebhard, P.M., Schmid, E., Bau, B., Harley, V., Pöschl, E. Matrix Biol. (2003)
- SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Rajender, S., Rajani, V., Gupta, N.J., Chakravarty, B., Singh, L., Thangaraj, K. Mol. Hum. Reprod. (2006)
- SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Ng, L.J., Wheatley, S., Muscat, G.E., Conway-Campbell, J., Bowles, J., Wright, E., Bell, D.M., Tam, P.P., Cheah, K.S., Koopman, P. Dev. Biol. (1997)