Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[1]
Contents
Function
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Also functions in very early stages of kidney organogenesis, the mullerian system, and the thymus.[2]
Clinical significance
Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1] A fusion protein, PAX8-PPAR-γ, is implicated in some follicular thyroid carcinomas and follicular-variant papillary thyroid carcinoma.[3]
Interactions
PAX8 has been shown to interact with NK2 homeobox 1.[4]
See also
References
- ^ a b "Entrez Gene: PAX8 paired box gene 8".
- ^ Laury AR, Perets R, Piao H et al. (June 2011). "A comprehensive analysis of PAX8 expression in human epithelial tumors". The American Journal of Surgical Pathology 35 (6): 816–26. doi:10.1097/PAS.0b013e318216c112. PMID 21552115.
- ^ Raman P, Koenig RJ (October 2014). "Pax-8-PPAR-γ fusion protein in thyroid carcinoma". Nature Reviews. Endocrinology 10 (10): 616–23. doi:10.1038/nrendo.2014.115. PMID 25069464.
- ^ Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M (January 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". The Journal of Biological Chemistry 278 (5): 3395–402. doi:10.1074/jbc.M205977200. PMID 12441357.
Further reading
- Poleev A, Fickenscher H, Mundlos S et al. (1993). "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors". Development 116 (3): 611–23. PMID 1337742.
- Poleev A, Wendler F, Fickenscher H et al. (1995). "Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors". Eur. J. Biochem. 228 (3): 899–911. doi:10.1111/j.1432-1033.1995.tb20338.x. PMID 7737192.
- Stapleton P, Weith A, Urbánek P et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Kozmik Z, Kurzbauer R, Dörfler P, Busslinger M (1993). "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties". Mol. Cell. Biol. 13 (10): 6024–35. PMC 364662. PMID 8413205.
- Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm. Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Fraizer GC, Shimamura R, Zhang X, Saunders GF (1998). "PAX 8 regulates human WT1 transcription through a novel DNA binding site". J. Biol. Chem. 272 (49): 30678–87. doi:10.1074/jbc.272.49.30678. PMID 9388203.
- Macchia PE, Lapi P, Krude H et al. (1998). "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis". Nat. Genet. 19 (1): 83–6. doi:10.1038/ng0598-83. PMID 9590296.
- Mansouri A, Chowdhury K, Gruss P (1998). "Follicular cells of the thyroid gland require Pax8 gene function". Nat. Genet. 19 (1): 87–90. doi:10.1038/ng0598-87. PMID 9590297.
- Tell G, Pellizzari L, Esposito G et al. (1999). "Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism". Biochem. J. 341 (1): 89–93. doi:10.1042/0264-6021:3410089. PMC 1220333. PMID 10377248.
- De Leo R, Miccadei S, Zammarchi E, Civitareale D (2000). "Role for p300 in Pax 8 induction of thyroperoxidase gene expression". J. Biol. Chem. 275 (44): 34100–5. doi:10.1074/jbc.M003043200. PMID 10924503.
- Roberts EC, Deed RW, Inoue T et al. (2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding". Mol. Cell. Biol. 21 (2): 524–33. doi:10.1128/MCB.21.2.524-533.2001. PMC 86614. PMID 11134340.
- Vilain C, Rydlewski C, Duprez L et al. (2001). "Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8". J. Clin. Endocrinol. Metab. 86 (1): 234–8. doi:10.1210/jc.86.1.234. PMID 11232006.
- Congdon T, Nguyen LQ, Nogueira CR et al. (2001). "A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child". J. Clin. Endocrinol. Metab. 86 (8): 3962–7. doi:10.1210/jc.86.8.3962. PMID 11502839.
- Miccadei S, De Leo R, Zammarchi E et al. (2002). "The synergistic activity of thyroid transcription factor 1 and Pax 8 relies on the promoter/enhancer interplay". Mol. Endocrinol. 16 (4): 837–46. doi:10.1210/me.16.4.837. PMID 11923479.
- Marques AR, Espadinha C, Catarino AL et al. (2002). "Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas". J. Clin. Endocrinol. Metab. 87 (8): 3947–52. doi:10.1210/jc.87.8.3947. PMID 12161538.
- Di Palma T, Nitsch R, Mascia A et al. (2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". J. Biol. Chem. 278 (5): 3395–402. doi:10.1074/jbc.M205977200. PMID 12441357.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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External links
- PAX8 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- "Xenbase Gene: Summary for pax8, species: Xenopus tropicalis". Xenbase. xenbase.org. Retrieved 2009-07-17.
A Xenopus laevis and tropicalis resource
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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