Gene Review:
SOX3 - SRY (sex determining region Y)-box 3
Homo sapiens
Synonyms:
GHDX, MRGH, PHP, PHPX, SOXB, ...
- Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Woods, K.S., Cundall, M., Turton, J., Rizotti, K., Mehta, A., Palmer, R., Wong, J., Chong, W.K., Al-Zyoud, M., El-Ali, M., Otonkoski, T., Martinez-Barbera, J.P., Thomas, P.Q., Robinson, I.C., Lovell-Badge, R., Woodward, K.J., Dattani, M.T. Am. J. Hum. Genet. (2005)
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Laumonnier, F., Ronce, N., Hamel, B.C., Thomas, P., Lespinasse, J., Raynaud, M., Paringaux, C., Van Bokhoven, H., Kalscheuer, V., Fryns, J.P., Chelly, J., Moraine, C., Briault, S. Am. J. Hum. Genet. (2002)
- SOX3 is an X-linked gene related to SRY. Stevanović, M., Lovell-Badge, R., Collignon, J., Goodfellow, P.N. Hum. Mol. Genet. (1993)
- X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. Raverot, G., Lejeune, H., Kotlar, T., Pugeat, M., Jameson, J.L. J. Clin. Endocrinol. Metab. (2004)
- An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. Bowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P., Thakker, R.V. J. Clin. Invest. (2005)
- The novel gene asb11: a regulator of the size of the neural progenitor compartment. Diks, S.H., Bink, R.J., van de Water, S., Joore, J., van Rooijen, C., Verbeek, F.J., den Hertog, J., Peppelenbosch, M.P., Zivkovic, D. J. Cell Biol. (2006)
- Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation. Wong, J., Farlie, P., Holbert, S., Lockhart, P., Thomas, P.Q. Front. Biosci. (2007)
- Modulation of SOX2 and SOX3 gene expression during differentiation of human neuronal precursor cell line NTERA2. Stevanovic, M. Mol. Biol. Rep. (2003)
- Comparative genomics on SOX2 orthologs. Katoh, Y., Katoh, M. Oncol. Rep. (2005)
- Absence of SOX3 in the developing marsupial gonad is not consistent with a conserved role in mammalian sex determination. Pask, A.J., Harry, J.L., Renfree, M.B., Marshall Graves, J.A. Genesis (2000)
- Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. Lim, H.N., Berkovitz, G.D., Hughes, I.A., Hawkins, J.R. Hum. Genet. (2000)
- Congenital motor nystagmus linked to Xq26-q27. Kerrison, J.B., Vagefi, M.R., Barmada, M.M., Maumenee, I.H. Am. J. Hum. Genet. (1999)
- A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Albrecht, A.N., Kornak, U., Böddrich, A., Süring, K., Robinson, P.N., Stiege, A.C., Lurz, R., Stricker, S., Wanker, E.E., Mundlos, S. Hum. Mol. Genet. (2004)
- Chromosomal localization of single copy genes SRY and SOX3 by primed in situ labeling (PRINS). Kadandale, J.S., Tunca, Y., Tharapel, A.T. Microb. Comp. Genomics (2000)
- From brain determination to testis determination: evolution of the mammalian sex-determining gene. Graves, J.A. Reprod. Fertil. Dev. (2001)