PAX8

From Wikipedia, the free encyclopedia


Paired box gene 8
PDB rendering based on 1k78.
Available structures: 1k78, 1mdm
Identifiers
Symbol(s) PAX8;
External IDs OMIM: 167415 MGI97492 HomoloGene2589
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 7849 18510
Ensembl ENSG00000125618 ENSMUSG00000026976
Uniprot Q06710 Q6GU20
Refseq NM_003466 (mRNA)
NP_003457 (protein)
NM_011040 (mRNA)
NP_035170 (protein)
Location Chr 2: 113.69 - 113.72 Mb Chr 2: 24.24 - 24.3 Mb
Pubmed search [1] [2]

Paired box gene 8, also known as PAX8, is a human gene.[1]

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. 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]

Contents

[edit] See also

[edit] References

[edit] 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. 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. 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. 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. PMID 8431641. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 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. 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. 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 ( Pt 1): 89–93. 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. 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. 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. 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. 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. 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. PMID 12477932. 

[edit] External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Languages