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Gene Review

PAX8  -  paired box 8

Homo sapiens

Synonyms: Paired box protein Pax-8
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Disease relevance of PAX8


High impact information on PAX8

  • PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis [6].
  • All three point mutations are located in the paired domain of PAX8 and result in severe reduction of the DNA-binding activity of this transcription factor [6].
  • The expression of PAX8 occurs in the induced mesenchyme of the developing kidney prior to the upregulation of WT1 levels in the same cells [7].
  • We also demonstrate that the endogenous wt1 promoter can be upregulated by exogenously supplied PAX8, suggesting that a function of PAX8 during mesenchymal--epithelial cell transition in renal development is to induce wt1 gene expression [7].
  • Transfection studies, as well as gel-shift assays, indicate that PAX8 transactivates wt1 through elements within a 38 bp conserved motif, present in human and murine promoters [7].

Biological context of PAX8


Anatomical context of PAX8


Associations of PAX8 with chemical compounds

  • HEX, PAX-8 and TTF-1 gene expression in human thyroid tissues: a comparative analysis with other genes involved in iodide metabolism [12].
  • Two independent cDNA clones reveal differential splicing of the PAX8 transcripts resulting in the removal of a 63 amino acid serine-rich region from the carboxy end of the predicted Pax8 protein [9].
  • One patient was found to harbor a heterozygous transversion 119A-->C in exon 3 of PAX8 replacing a conserved glutamine by proline in the paired box domain (Q40P) [13].
  • The mutation consists of the substitution of a tyrosine for cysteine 57 in the paired domain of PAX8 [14].
  • Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31 [15].

Physical interactions of PAX8


Regulatory relationships of PAX8


Other interactions of PAX8


Analytical, diagnostic and therapeutic context of PAX8


  1. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Grasberger, H., Ringkananont, U., Lefrancois, P., Abramowicz, M., Vassart, G., Refetoff, S. Mol. Endocrinol. (2005) [Pubmed]
  2. Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors. Dwight, T., Thoppe, S.R., Foukakis, T., Lui, W.O., Wallin, G., Höög, A., Frisk, T., Larsson, C., Zedenius, J. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  3. Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas. Cheung, L., Messina, M., Gill, A., Clarkson, A., Learoyd, D., Delbridge, L., Wentworth, J., Philips, J., Clifton-Bligh, R., Robinson, B.G. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  4. Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines. Ferretti, E., Arturi, F., Mattei, T., Scipioni, A., Tell, G., Tosi, E., Presta, I., Morisi, R., Lacroix, L., Gulino, A., Russo, D., Damante, G., Filetti, S. Endocrinology (2005) [Pubmed]
  5. PAX8 and peroxisome proliferator-activated receptor gamma 1 gene expression status in benign and malignant thyroid tissues. Lacroix, L., Mian, C., Barrier, T., Talbot, M., Caillou, B., Schlumberger, M., Bidart, J.M. Eur. J. Endocrinol. (2004) [Pubmed]
  6. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Macchia, P.E., Lapi, P., Krude, H., Pirro, M.T., Missero, C., Chiovato, L., Souabni, A., Baserga, M., Tassi, V., Pinchera, A., Fenzi, G., Grüters, A., Busslinger, M., Di Lauro, R. Nat. Genet. (1998) [Pubmed]
  7. PAX8-mediated activation of the wt1 tumor suppressor gene. Dehbi, M., Pelletier, J. EMBO J. (1996) [Pubmed]
  8. PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) disrupts normal PAX8 or PPARgamma transcriptional function and stimulates follicular thyroid cell growth. Au, A.Y., McBride, C., Wilhelm, K.G., Koenig, R.J., Speller, B., Cheung, L., Messina, M., Wentworth, J., Tasevski, V., Learoyd, D., Robinson, B.G., Clifton-Bligh, R.J. Endocrinology (2006) [Pubmed]
  9. PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors. Poleev, A., Fickenscher, H., Mundlos, S., Winterpacht, A., Zabel, B., Fidler, A., Gruss, P., Plachov, D. Development (1992) [Pubmed]
  10. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. Trueba, S.S., Augé, J., Mattei, G., Etchevers, H., Martinovic, J., Czernichow, P., Vekemans, M., Polak, M., Attié-Bitach, T. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  11. Paired box gene expression in Wilms' tumor. Tagge, E.P., Hanson, P., Re, G.G., Othersen, H.B., Smith, C.D., Garvin, A.J. J. Pediatr. Surg. (1994) [Pubmed]
  12. HEX, PAX-8 and TTF-1 gene expression in human thyroid tissues: a comparative analysis with other genes involved in iodide metabolism. Lacroix, L., Michiels, S., Mian, C., Arturi, F., Caillou, B., Filetti, S., Schlumberger, M., Bidart, J.M. Clin. Endocrinol. (Oxf) (2006) [Pubmed]
  13. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. Congdon, T., Nguyen, L.Q., Nogueira, C.R., Habiby, R.L., Medeiros-Neto, G., Kopp, P. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  14. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. Vilain, C., Rydlewski, C., Duprez, L., Heinrichs, C., Abramowicz, M., Malvaux, P., Renneboog, B., Parma, J., Costagliola, S., Vassart, G. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  15. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. Komatsu, M., Takahashi, T., Takahashi, I., Nakamura, M., Takahashi, I., Takada, G. J. Pediatr. (2001) [Pubmed]
  16. PAX 8 regulates human WT1 transcription through a novel DNA binding site. Fraizer, G.C., Shimamura, R., Zhang, X., Saunders, G.F. J. Biol. Chem. (1997) [Pubmed]
  17. Thyroid transcription factor 1 and Pax8 synergistically activate the promoter of the human thyroglobulin gene. Espinoza, C.R., Schmitt, T.L., Loos, U. J. Mol. Endocrinol. (2001) [Pubmed]
  18. Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas. Marques, A.R., Espadinha, C., Catarino, A.L., Moniz, S., Pereira, T., Sobrinho, L.G., Leite, V. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  19. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. de Sanctis, L., Corrias, A., Romagnolo, D., Di Palma, T., Biava, A., Borgarello, G., Gianino, P., Silvestro, L., Zannini, M., Dianzani, I. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
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