PAX4 explained

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.

See also

• Pax genes
• Maturity onset diabetes of the young type 9

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 . Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes . Developmental Cell . 26 . 1 . 86–100 . Jul 2013 . 23810513 . 10.1016/j.devcel.2013.05.018 . free . 11858/00-001M-0000-0014-3C2F-6 . free .
• Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A . The ectopic expression of Pax4 in the mouse pancreas converts progenitor cells into alpha and subsequently beta cells . Cell . 138 . 3 . 449–62 . Aug 2009 . 19665969 . 2792203 . 10.1016/j.cell.2009.05.035 .
• Sosa-Pineda B . The gene Pax4 is an essential regulator of pancreatic beta-cell development . Molecules and Cells . 18 . 3 . 289–94 . Dec 2004 . 10.1016/S1016-8478(23)13114-1 . 15650323 . free .
• Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M . Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 . Nature Genetics . 3 . 4 . 292–8 . Apr 1993 . 7981748 . 10.1038/ng0493-292 . 21338655 .
• Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N . Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization . Cytogenetics and Cell Genetics . 66 . 2 . 132–4 . 1994 . 8287686 . 10.1159/000133684 .
• Pilz AJ, Povey S, Gruss P, Abbott CM . Mapping of the human homologs of the murine paired-box-containing genes . Mammalian Genome . 4 . 2 . 78–82 . 1993 . 8431641 . 10.1007/BF00290430 . 30845070 .
• Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M . Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4 . Biochemical and Biophysical Research Communications . 242 . 1 . 176–80 . Jan 1998 . 9439631 . 10.1006/bbrc.1997.7935 .
• Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y . Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue . Biochemical and Biophysical Research Communications . 243 . 2 . 628–33 . Feb 1998 . 9480859 . 10.1006/bbrc.1998.8144 .
• Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI . Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome . Journal of Medical Genetics . 35 . 4 . 288–92 . Apr 1998 . 9598721 . 1051275 . 10.1136/jmg.35.4.288 .
• Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA . Isolation and characterization of the human PAX4 gene . Diabetes . 47 . 10 . 1650–3 . Oct 1998 . 9753306 . 10.2337/diabetes.47.10.1650 . free .
• Smith SB, Watada H, Scheel DW, Mrejen C, German MS . Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter . The Journal of Biological Chemistry . 275 . 47 . 36910–9 . Nov 2000 . 10967107 . 10.1074/jbc.M005202200 . free .
• Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K . Expression of dominant negative form of PAX4 in human insulinoma . Biochemical and Biophysical Research Communications . 282 . 1 . 34–40 . Mar 2001 . 11263967 . 10.1006/bbrc.2001.4552 .
• Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K . A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese . Diabetes . 50 . 12 . 2864–9 . Dec 2001 . 11723072 . 10.2337/diabetes.50.12.2864 . free .
• Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T . Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4 . Metabolism . 51 . 9 . 1161–5 . Sep 2002 . 12200761 . 10.1053/meta.2002.34707 .
• Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N . PAX4 mutation (R121W) as a prodiabetic variant in Okinawans . Biochemical and Biophysical Research Communications . 302 . 2 . 342–4 . Mar 2003 . 12604352 . 10.1016/S0006-291X(03)00176-1 .
• Kemp DM, Lin JC, Habener JF . Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor . The Journal of Biological Chemistry . 278 . 37 . 35057–62 . Sep 2003 . 12829700 . 10.1074/jbc.M305891200 . free .
• Holm P, Rydlander B, Luthman H, Kockum I . 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 . Jun 2004 . 15161765 . 10.2337/diabetes.53.6.1584 . European Consortium for IDDM Genome Studies . free .
• Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR . The diabetes-linked transcription factor PAX4 promotes -cell proliferation and survival in rat and human islets . The Journal of Cell Biology . 167 . 6 . 1123–35 . Dec 2004 . 15596543 . 2172618 . 10.1083/jcb.200405148 .

Notes and References

1. Web site: Entrez Gene: PAX4 paired box gene 4.
2. Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M . Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4 . Biochemical and Biophysical Research Communications . 242 . 1 . 176–80 . Jan 1998 . 9439631 . 10.1006/bbrc.1997.7935 .
3. Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y . Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue . Biochemical and Biophysical Research Communications . 243 . 2 . 628–33 . Feb 1998 . 9480859 . 10.1006/bbrc.1998.8144 .