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Gene Review

SIX1  -  SIX homeobox 1

Homo sapiens

Synonyms: BOS3, DFNA23, Homeobox protein SIX1, Sine oculis homeobox homolog 1, TIP39
 
 
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Disease relevance of SIX1

 

High impact information on SIX1

  • VIL2 and SIX1 expression was enhanced in human RMS tissue, significantly correlating with clinical stage [4].
  • Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation [5].
  • By direct sequencing of exons, we identified three different SIX1 mutations in four BOR/BO kindreds, thus identifying SIX1 as a gene causing BOR and BO syndromes [1].
  • These data implicate Six1 gene amplification/overrepresentation as a mechanism of Six1 mRNA overexpression in human breast cancer [3].
  • Here we show that a change in gene dosage may contribute to Six1 mRNA overexpression [3].
 

Biological context of SIX1

 

Anatomical context of SIX1

 

Associations of SIX1 with chemical compounds

  • RESULTS:: The patient carried a heterozygous A-->G mutation at nucleotide 386 within exon 1 of SIX1 that resulted in substitution of a cysteine for a tyrosine at codon 129 (Y129C) of the gene product [9].
 

Other interactions of SIX1

  • Our findings, when taken together, indicate that SALL1 is a likely target gene for SIX1 during kidney development [7].
  • It is interesting that a SIX1 sequence variant was identified in two siblings with renal-coloboma syndrome as a result of a PAX2 mutation, suggesting an oligogenic inheritance [11].
  • BOR is caused by mutations in the genes EYA1 and SIX1 [12].
  • In addition, deletion of BMP4 and SIX6 is likely to contribute to the abnormal pituitary development, and SIX1 deletion may contribute to the ear and other craniofacial features [13].
  • In the jellyfish Cladonema radiatum, a species with well-developed lens eyes in the tentacle bulbs, Six1/2-Cr and Six3/6-Cr, are expressed in the eye cup [14].
 

Analytical, diagnostic and therapeutic context of SIX1

References

  1. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Ruf, R.G., Xu, P.X., Silvius, D., Otto, E.A., Beekmann, F., Muerb, U.T., Kumar, S., Neuhaus, T.J., Kemper, M.J., Raymond, R.M., Brophy, P.D., Berkman, J., Gattas, M., Hyland, V., Ruf, E.M., Schwartz, C., Chang, E.H., Smith, R.J., Stratakis, C.A., Weil, D., Petit, C., Hildebrandt, F. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. The homeoprotein six1 transcriptionally activates multiple protumorigenic genes but requires ezrin to promote metastasis. Yu, Y., Davicioni, E., Triche, T.J., Merlino, G. Cancer Res. (2006) [Pubmed]
  3. Gene amplification is a mechanism of Six1 overexpression in breast cancer. Reichenberger, K.J., Coletta, R.D., Schulte, A.P., Varella-Garcia, M., Ford, H.L. Cancer Res. (2005) [Pubmed]
  4. Expression profiling identifies the cytoskeletal organizer ezrin and the developmental homeoprotein Six-1 as key metastatic regulators. Yu, Y., Khan, J., Khanna, C., Helman, L., Meltzer, P.S., Merlino, G. Nat. Med. (2004) [Pubmed]
  5. Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation. Heanue, T.A., Reshef, R., Davis, R.J., Mardon, G., Oliver, G., Tomarev, S., Lassar, A.B., Tabin, C.J. Genes Dev. (1999) [Pubmed]
  6. Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein. Ford, H.L., Landesman-Bollag, E., Dacwag, C.S., Stukenberg, P.T., Pardee, A.B., Seldin, D.C. J. Biol. Chem. (2000) [Pubmed]
  7. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y. J. Biol. Chem. (2006) [Pubmed]
  8. Cloning of the human SIX1 gene and its assignment to chromosome 14. Boucher, C.A., Carey, N., Edwards, Y.H., Siciliano, M.J., Johnson, K.J. Genomics (1996) [Pubmed]
  9. SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome. Ito, T., Noguchi, Y., Yashima, T., Kitamura, K. Laryngoscope (2006) [Pubmed]
  10. Development and differentiation of the ureteric bud into the ureter in the absence of a kidney collecting system. Bush, K.T., Vaughn, D.A., Li, X., Rosenfeld, M.G., Rose, D.W., Mendoza, S.A., Nigam, S.K. Dev. Biol. (2006) [Pubmed]
  11. Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia: Results of the ESCAPE Study. Weber, S., Moriniere, V., Kn??ppel, T., Charbit, M., Dusek, J., Ghiggeri, G.M., Jankauskien??, A., Mir, S., Montini, G., Peco-Antic, A., W??hl, E., Zurowska, A.M., Mehls, O., Antignac, C., Schaefer, F., Salomon, R. J. Am. Soc. Nephrol. (2006) [Pubmed]
  12. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. Henriksen, A.M., Tümer, Z., Tommerup, N., Tranebjaerg, L., Larsen, L.A. Genet. Test. (2004) [Pubmed]
  13. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Nolen, L.D., Amor, D., Haywood, A., St Heaps, L., Willcock, C., Mihelec, M., Tam, P., Billson, F., Grigg, J., Peters, G., Jamieson, R.V. Am. J. Med. Genet. A (2006) [Pubmed]
  14. The Sine oculis/Six class family of homeobox genes in jellyfish with and without eyes: development and eye regeneration. Stierwald, M., Yanze, N., Bamert, R.P., Kammermeier, L., Schmid, V. Dev. Biol. (2004) [Pubmed]
  15. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Okada, M., Fujimaru, R., Morimoto, N., Satomura, K., Kaku, Y., Tsuzuki, K., Nozu, K., Okuyama, T., Iijima, K. Pediatr. Nephrol. (2006) [Pubmed]
  16. Clinicopathological significance of homeoprotein Six1 in hepatocellular carcinoma. Ng, K.T., Man, K., Sun, C.K., Lee, T.K., Poon, R.T., Lo, C.M., Fan, S.T. Br. J. Cancer (2006) [Pubmed]
 
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