Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.[1][2][3]
Function
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.[1]
See also
References
- ^ a b "Entrez Gene: PAX4 paired box gene 4".
- ^ Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (January 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
- ^ Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (February 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
Further reading
- Al-Hasani K, Pfeifer A, Courtney M, Ben-Othman N, Gjernes E, Vieira A, Druelle N, Avolio F, Ravassard P, Leuckx G, Lacas-Gervais S, Ambrosetti D, Benizri E, Hecksher-Sorensen J, Gounon P, Ferrer J, Gradwohl G, Heimberg H, Mansouri A, Collombat P (July 2013). "Adult Duct-Lining Cells Can Reprogram into β-like Cells Able to Counter Repeated Cycles of Toxin-Induced Diabetes". Dev. Cell 26 (1): 86–100. doi:10.1016/j.devcel.2013.05.018. PMID 23810513.
- Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (August 2009). "The ectopic expression of Pax4 in the mouse pancreas converts progenitor cells into alpha and subsequently beta cells". Cell 138 (3): 449–62. doi:10.1016/j.cell.2009.05.035. PMC 2792203. PMID 19665969.
- Sosa-Pineda B (2005). "The gene Pax4 is an essential regulator of pancreatic beta-cell development". Mol. Cells 18 (3): 289–94. PMID 15650323.
- 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.
- Tamura T; Izumikawa Y; Kishino T et al. (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization". Cytogenet. Cell Genet. 66 (2): 132–4. doi:10.1159/000133684. PMID 8287686.
- 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.
- Matsushita T; Yamaoka T; Otsuka S et al. (1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
- Inoue H; Nomiyama J; Nakai K et al. (1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
- Bonthron DT; Dunlop N; Barr DG et al. (1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome". J. Med. Genet. 35 (4): 288–92. doi:10.1136/jmg.35.4.288. PMC 1051275. PMID 9598721.
- Tao T; Wasson J; Bernal-Mizrachi E et al. (1998). "Isolation and characterization of the human PAX4 gene". Diabetes 47 (10): 1650–3. doi:10.2337/diabetes.47.10.1650. PMID 9753306.
- Smith SB; Watada H; Scheel DW et al. (2001). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter". J. Biol. Chem. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107.
- Miyamoto T; Kakizawa T; Ichikawa K et al. (2001). "Expression of dominant negative form of PAX4 in human insulinoma". Biochem. Biophys. Res. Commun. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967.
- Shimajiri Y; Sanke T; Furuta H et al. (2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese". Diabetes 50 (12): 2864–9. doi:10.2337/diabetes.50.12.2864. PMID 11723072.
- Kanatsuka A; Tokuyama Y; Nozaki O et al. (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metab. Clin. Exp. 51 (9): 1161–5. doi:10.1053/meta.2002.34707. PMID 12200761.
- 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.
- Shimajiri Y; Shimabukuro M; Tomoyose T et al. (2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans". Biochem. Biophys. Res. Commun. 302 (2): 342–4. doi:10.1016/S0006-291X(03)00176-1. PMID 12604352.
- Scherer SW; Cheung J; MacDonald JR et al. (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
- Kemp DM, Lin JC, Habener JF (2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor". J. Biol. Chem. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700.
- Holm P; Rydlander B; Luthman H et al. (2004). "Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families". Diabetes 53 (6): 1584–91. doi:10.2337/diabetes.53.6.1584. PMID 15161765.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Brun T, Franklin I, St-Onge L et al. (2005). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.". J. Cell Biol. 167 (6): 1123–35. doi:10.1083/jcb.200405148. PMC 2172618. PMID 15596543.
External links
- PAX4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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