PAX4
Appearance
Paired box gene 4,also known asPAX4,is aproteinwhich in humans is encoded by thePAX4gene.[5][6][7]
Function[edit]
This gene is a member of the paired box (PAX) family oftranscription factors.Members of this gene family typically contain a paired box domain, an octapeptide,and a paired-typehomeodomain.These genes play critical roles during fetal development andcancergrowth. The paired box gene 4 is involved inpancreatic isletdevelopment and mouse studies have demonstrated a role for this gene in differentiation of insulin-producingbeta cells.[5]
See also[edit]
References[edit]
- ^abcGRCh38: Ensembl release 89: ENSG00000106331–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000029706–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ab"Entrez Gene: PAX4 paired box gene 4".
- ^Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "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.doi:10.1006/bbrc.1997.7935.PMID9439631.
- ^Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue".Biochemical and Biophysical Research Communications.243(2): 628–33.doi:10.1006/bbrc.1998.8144.PMID9480859.
Further reading[edit]
- 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 (Jul 2013)."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.doi:10.1016/j.devcel.2013.05.018.hdl:11858/00-001M-0000-0014-3C2F-6.PMID23810513.
- Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (Aug 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.PMC2792203.PMID19665969.
- Sosa-Pineda B (Dec 2004)."The gene Pax4 is an essential regulator of pancreatic beta-cell development".Molecules and Cells.18(3): 289–94.doi:10.1016/S1016-8478(23)13114-1.PMID15650323.
- Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9".Nature Genetics.3(4): 292–8.doi:10.1038/ng0493-292.PMID7981748.S2CID21338655.
- Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization".Cytogenetics and Cell Genetics.66(2): 132–4.doi:10.1159/000133684.PMID8287686.
- Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes".Mammalian Genome.4(2): 78–82.doi:10.1007/BF00290430.PMID8431641.S2CID30845070.
- Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "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.doi:10.1006/bbrc.1997.7935.PMID9439631.
- Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue".Biochemical and Biophysical Research Communications.243(2): 628–33.doi:10.1006/bbrc.1998.8144.PMID9480859.
- Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI (Apr 1998)."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.doi:10.1136/jmg.35.4.288.PMC1051275.PMID9598721.
- Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA (Oct 1998)."Isolation and characterization of the human PAX4 gene".Diabetes.47(10): 1650–3.doi:10.2337/diabetes.47.10.1650.PMID9753306.
- Smith SB, Watada H, Scheel DW, Mrejen C, German MS (Nov 2000)."Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter".The Journal of Biological Chemistry.275(47): 36910–9.doi:10.1074/jbc.M005202200.PMID10967107.
- Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K (Mar 2001). "Expression of dominant negative form of PAX4 in human insulinoma".Biochemical and Biophysical Research Communications.282(1): 34–40.doi:10.1006/bbrc.2001.4552.PMID11263967.
- Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K (Dec 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.PMID11723072.
- Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T (Sep 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4".Metabolism.51(9): 1161–5.doi:10.1053/meta.2002.34707.PMID12200761.
- Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N (Mar 2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans".Biochemical and Biophysical Research Communications.302(2): 342–4.doi:10.1016/S0006-291X(03)00176-1.PMID12604352.
- Kemp DM, Lin JC, Habener JF (Sep 2003)."Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor".The Journal of Biological Chemistry.278(37): 35057–62.doi:10.1074/jbc.M305891200.PMID12829700.
- Holm P, Rydlander B, Luthman H, Kockum I (Jun 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.PMID15161765.
- Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR (Dec 2004)."The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets".The Journal of Cell Biology.167(6): 1123–35.doi:10.1083/jcb.200405148.PMC2172618.PMID15596543.
External links[edit]
- PAX4+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.