Genomes and Genes
pax2 transcription factor
Summary: A paired box transcription factor that is essential for ORGANOGENESIS of the CENTRAL NERVOUS SYSTEM and KIDNEY.
- Bouchard M, Grote D, Craven S, Sun Q, Steinlein P, Busslinger M. Identification of Pax2-regulated genes by expression profiling of the mid-hindbrain organizer region. Development. 2005;132:2633-43 pubmed..Together, these data defined novel functions of Pax2 in the establishment of distinct transcriptional programs and in the control of intracellular signaling during mid-hindbrain development...
- Hueber P, Iglesias D, Chu L, Eccles M, Goodyer P. In vivo validation of PAX2 as a target for renal cancer therapy. Cancer Lett. 2008;265:148-55 pubmed publisher..Our observations validate PAX2 as a potential therapeutic gene target in renal cancer and suggest that adjunctive PAX2 knockdown may enhance the efficacy of other chemotherapeutic agents. ..
- Pichaud F, Desplan C. Pax genes and eye organogenesis. Curr Opin Genet Dev. 2002;12:430-4 pubmed..These studies not only implicate the Pax genes but also the So/Six gene family in playing a crucial ancestral role in visual system development. ..
- Cordell H, Darlay R, Charoen P, Stewart A, Gullett A, Lambert H, et al. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J Am Soc Nephrol. 2010;21:113-23 pubmed publisher..The results of this study, which is the largest to date investigating the genetics of reflux, suggest that major loci may not exist for this common renal tract malformation within European populations. ..
- Silberstein G, Dressler G, Van Horn K. Expression of the PAX2 oncogene in human breast cancer and its role in progesterone-dependent mammary growth. Oncogene. 2002;21:1009-16 pubmed..These data indicate a role for PAX2 (and possibly WT1) in the regulation of the progesterone response of the mature mammary gland. The potential contribution of PAX2 to breast tumor pathogenesis is discussed. ..
- Bussolati B, Bruno S, Grange C, Buttiglieri S, Deregibus M, Cantino D, et al. Isolation of renal progenitor cells from adult human kidney. Am J Pathol. 2005;166:545-55 pubmed..We propose that CD133+ cells from kidney represent a multipotent adult resident stem cell population that may contribute to the repair of renal injury. ..
- Brophy P, Ostrom L, Lang K, Dressler G. Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene. Development. 2001;128:4747-56 pubmed..Thus, activation of GDNF by Pax2 coordinates the position and outgrowth of the ureteric bud such that kidney development can begin. ..
- Li H, Liu H, Corrales C, Mutai H, Heller S. Correlation of Pax-2 expression with cell proliferation in the developing chicken inner ear. J Neurobiol. 2004;60:61-70 pubmed..Furthermore, the likelihood that Pax-2-expressing cells in the otocyst die by apoptosis is much lower when compared with cells residing in Pax-2-negative regions. ..
- Glasgow S, Henke R, Macdonald R, Wright C, Johnson J. Ptf1a determines GABAergic over glutamatergic neuronal cell fate in the spinal cord dorsal horn. Development. 2005;132:5461-9 pubmed..5. Thus, Ptf1a function is essential for GABAergic over glutamatergic neuronal cell fates in the developing spinal cord, and provides an important genetic link between inhibitory and excitatory interneuron development. ..
- Kwak S, Vemaraju S, Moorman S, Zeddies D, Popper A, Riley B. Zebrafish pax5 regulates development of the utricular macula and vestibular function. Dev Dyn. 2006;235:3026-38 pubmed..Thus, pax5 works in conjunction with fgf3 and pax2a to establish and/or maintain the utricular macula and is essential for vestibular function...
- Millimaki B, Sweet E, Dhason M, Riley B. Zebrafish atoh1 genes: classic proneural activity in the inner ear and regulation by Fgf and Notch. Development. 2007;134:295-305 pubmed..A model is presented in which zebrafish atoh1 genes operate in a complex network leading to hair cell development. ..
- Goode D, Elgar G. The PAX258 gene subfamily: a comparative perspective. Dev Dyn. 2009;238:2951-74 pubmed publisher..We also discuss their fundamental place within gene regulatory networks and the likely influence of cis-regulatory elements over their differential roles during early animal development. ..
- Stanke J, Moose H, El Hodiri H, Fischer A. Comparative study of Pax2 expression in glial cells in the retina and optic nerve of birds and mammals. J Comp Neurol. 2010;518:2316-33 pubmed publisher..We conclude that the expression of Pax2 in the vertebrate eye is restricted to retinal astrocytes, peripapillary glia, and glia within the optic nerve. ..
- Sanchez Calderon H, Martin Partido G, Hidalgo Sanchez M. Differential expression of Otx2, Gbx2, Pax2, and Fgf8 in the developing vestibular and auditory sensory organs. Brain Res Bull. 2002;57:321-3 pubmed
- Bouchard M, Souabni A, Mandler M, Neubüser A, Busslinger M. Nephric lineage specification by Pax2 and Pax8. Genes Dev. 2002;16:2958-70 pubmed..Together, these data identify Pax2 and Pax8 as critical regulators that specify the nephric lineage...
- Merlo G, Paleari L, Mantero S, Zerega B, Adamska M, Rinkwitz S, et al. The Dlx5 homeobox gene is essential for vestibular morphogenesis in the mouse embryo through a BMP4-mediated pathway. Dev Biol. 2002;248:157-69 pubmed
- Baumer N, Marquardt T, Stoykova A, Spieler D, Treichel D, Ashery Padan R, et al. Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6. Development. 2003;130:2903-15 pubmed..Together, these results demonstrate that the redundant activities of Pax2 and Pax6 direct the determination of RPE, potentially by directly controlling the expression of RPE determinants. ..
- Zheng W, Huang L, Wei Z, Silvius D, Tang B, Xu P. The role of Six1 in mammalian auditory system development. Development. 2003;130:3989-4000 pubmed..These analyses establish a role for Six1 in early growth and patterning of the otic vesicle. ..
- Muratovska A, Zhou C, He S, Goodyer P, Eccles M. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene. 2003;22:7989-97 pubmed..These data suggest that PAX genes are frequently expressed in cancer, and that endogenous PAX gene expression is required for the growth and survival of cancer cells. ..
- Torban E, Dziarmaga A, Iglesias D, Chu L, Vassilieva T, Little M, et al. PAX2 activates WNT4 expression during mammalian kidney development. J Biol Chem. 2006;281:12705-12 pubmed..We speculated that a key function of PAX2 is to activate WNT4 gene expression in metanephric mesenchymal cells as they differentiate to form elements of the renal tubules. ..
- Soukkarieh C, Agius E, Soula C, Cochard P. Pax2 regulates neuronal-glial cell fate choice in the embryonic optic nerve. Dev Biol. 2007;303:800-13 pubmed
- Solomon K, Fritz A. Concerted action of two dlx paralogs in sensory placode formation. Development. 2002;129:3127-36 pubmed..However, our results indicate that dlx3 and dlx7 act in concert and their importance in placode formation is only revealed by inactivating both paralogs. ..
- Clarke J, Patel S, Raymond R, Andrew S, Robinson B, Dressler G, et al. Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage. Hum Mol Genet. 2006;15:3420-8 pubmed..The effects of reduced Pax2 gene dosage are thus amplified resulting in a haploinsufficient phenotype. ..
- Chivukula M, Dabbs D, O Connor S, Bhargava R. PAX 2: a novel Müllerian marker for serous papillary carcinomas to differentiate from micropapillary breast carcinoma. Int J Gynecol Pathol. 2009;28:570-8 pubmed publisher..We therefore conclude that PAX 2 is a promising new, sensitive, and specific müllerian immunomarker for ovarian serous carcinomas (primary and metastatic). ..
- Yoshimura K, Yoshida S, Yamaji Y, Komori A, Yoshida A, Hatae K, et al. De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. Am J Ophthalmol. 2005;139:733-5 pubmed..Molecular genetic analysis of the PAX2 gene in combination with renal ultrasonography can help in making an earlier diagnosis of the disease. ..
- Busse A, Rietz A, Schwartz S, Thiel E, Keilholz U. An intron 9 containing splice variant of PAX2. J Transl Med. 2009;7:36 pubmed publisher..We discovered a previously undescribed intron 9 and exon 10 containing splice variant of PAX2 in B-cell neoplasia and in solid tumors on mRNA and protein level. ..
- Brodbeck S, Englert C. Genetic determination of nephrogenesis: the Pax/Eya/Six gene network. Pediatr Nephrol. 2004;19:249-55 pubmed
- Chan Ling T, McLeod D, Hughes S, Baxter L, Chu Y, Hasegawa T, et al. Astrocyte-endothelial cell relationships during human retinal vascular development. Invest Ophthalmol Vis Sci. 2004;45:2020-32 pubmed..These results lead to the conclusion that formation of the initial human retinal vasculature takes place through vasculogenesis from the prior invasion of vascular precursor cells. ..
- Asemissen A, Haase D, Stevanovic S, Bauer S, Busse A, Thiel E, et al. Identification of an immunogenic HLA-A*0201-binding T-cell epitope of the transcription factor PAX2. J Immunother. 2009;32:370-5 pubmed publisher..Thus, PAX2 is another embryonic transcription factor, which is of potential interest as immunotherapy target antigen. ..
- Patel S, Dressler G. Expression of Pax2 in the intermediate mesoderm is regulated by YY1. Dev Biol. 2004;267:505-16 pubmed..These data point to a novel role for YY1 in the establishment of high level tissue-specific expression within the intermediate mesoderm. ..
- Cheong H, Cho H, Kim J, Yu Y, Ha I, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol. 2007;22:1283-9 pubmed..VUR is not a cardinal renal manifestation of RCS. The possibility of germline mosaicism should be considered during molecular diagnosis and genetic counseling for PAX2 mutations. ..
- Gong K, Yallowitz A, Sun H, Dressler G, Wellik D. A Hox-Eya-Pax complex regulates early kidney developmental gene expression. Mol Cell Biol. 2007;27:7661-8 pubmed..Thus, anterior-posterior-patterning Hox proteins interact with Pax2 and Eya1, factors important for nephrogenic mesoderm specification, to directly regulate the activation of downstream target genes during early kidney development. ..
- Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, et al. Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. Clin Nephrol. 2007;67:1-4 pubmed..The aim of the present study was to characterize PAX2 mutations in a renal coloboma syndrome family with a highly variable phenotype...
- Warchol M, Richardson G. Expression of the Pax2 transcription factor is associated with vestibular phenotype in the avian inner ear. Dev Neurobiol. 2009;69:191-202 pubmed publisher..The results indicate that Pax2 continues to be expressed in the mature avian ear, and that its expression pattern is correlated with a vestibular phenotype. ..
- Memeo L, Jhang J, Assaad A, McKiernan J, Murty V, Hibshoosh H, et al. Immunohistochemical analysis for cytokeratin 7, KIT, and PAX2: value in the differential diagnosis of chromophobe cell carcinoma. Am J Clin Pathol. 2007;127:225-9 pubmed..These results identify specific staining patterns of the 4 major histologic subtypes of renal neoplasms and raise the question of a relationship between chromosome 10 loss and loss of PAX2 expression in ChC. ..
- Hueber P, Waters P, Clark P, Clarke P, Eccles M, Goodyer P. PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells. Kidney Int. 2006;69:1139-45 pubmed..Similarly, Pax2 overexpression in RCC cells contributes to cisplatin resistance. Conceivably, a therapeutic strategy that inactivates Pax2 in vivo might enhance the efficacy of conventional cytotoxic drugs against RCC. ..
- Poladia D, Kish K, Kutay B, Hains D, Kegg H, Zhao H, et al. Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme. Dev Biol. 2006;291:325-39 pubmed..In metanephric mesenchymal rudiments, fgfr1 and fgfr2 appear to function downstream of Eya1 and Six1, but upstream of Six2, Sall1, and Pax2. Finally, this is the first example of renal aplasia in a conditional knockout model. ..
- Schimmenti L, Manligas G, Sieving P. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003;24:191-202 pubmed..We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date...
- Discenza M, He S, Lee T, Chu L, Bolon B, Goodyer P, et al. WT1 is a modifier of the Pax2 mutant phenotype: cooperation and interaction between WT1 and Pax2. Oncogene. 2003;22:8145-55 pubmed..We show that WT1 and Pax2 proteins interact in vitro and in vivo, demonstrating that WT1 and Pax2 can form a molecular complex. Our data suggest that WT1 is a modifier of the Pax2 mutant phenotype. ..
- Mackereth M, Kwak S, Fritz A, Riley B. Zebrafish pax8 is required for otic placode induction and plays a redundant role with Pax2 genes in the maintenance of the otic placode. Development. 2005;132:371-82 pubmed..These data show that pax8 is initially required for normal otic induction, and subsequently pax8, pax2a and pax2b act redundantly to maintain otic fate. ..
- Buttiglieri S, Deregibus M, Bravo S, Cassoni P, Chiarle R, Bussolati B, et al. Role of Pax2 in apoptosis resistance and proinvasive phenotype of Kaposi's sarcoma cells. J Biol Chem. 2004;279:4136-43 pubmed..Moreover, PAX2-transfected endothelial cells acquired a phenotype resembling that of Kaposi's lesional cells, suggesting a role of this embryonic gene in tumorigenesis. ..
- Thanos S, Püttmann S, Naskar R, Rose K, Langkamp Flock M, Paulus W. Potential role of Pax-2 in retinal axon navigation through the chick optic nerve stalk and optic chiasm. J Neurobiol. 2004;59:8-23 pubmed..These data suggest that balanced expression of Pax-2 results in the correct formation of the chick chiasm at early stages by imposing accurate pathfinding within the optic stalk and the midline. ..
- Lawoko Kerali G, Rivolta M, Holley M. Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear. J Comp Neurol. 2002;442:378-91 pubmed..GATA3 is thus expressed in functionally distinct groups of cells that integrate to form a complete sensory system. The results suggest that both factors may be involved in tissue compartmentalisation, morphogenesis, and cell signalling. ..
- Monte N, Webster K, Neuberg D, Dressler G, Mutter G. Joint loss of PAX2 and PTEN expression in endometrial precancers and cancer. Cancer Res. 2010;70:6225-32 pubmed publisher..Loss of function of both genes in an overlapping distribution characterizes the clinical emergence of a premalignant lesion which is carried forward to carcinoma. ..
- Eccles M, He S, Legge M, Kumar R, Fox J, Zhou C, et al. PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int J Dev Biol. 2002;46:535-44 pubmed..We discuss the role of PAX2 in the context of an inhibitory field model of kidney branching morphogenesis and summarize recent progress in this area. ..
- Quinlan J, Lemire M, Hudson T, Qu H, Benjamin A, Roy A, et al. A common variant of the PAX2 gene is associated with reduced newborn kidney size. J Am Soc Nephrol. 2007;18:1915-21 pubmed..Subtle renal hypoplasia in normal newborns may be partially due to a common variant of the PAX2 gene that reduces mRNA expression during kidney development. ..
- Streit A. Extensive cell movements accompany formation of the otic placode. Dev Biol. 2002;249:237-54 pubmed..Although Pax2 expression coincides with the region where otic precursors are found from stage 8, not all Pax2-positive cells will ultimately contribute to the otic placode. ..
- Riccomagno M, Martinu L, Mulheisen M, Wu D, Epstein D. Specification of the mammalian cochlea is dependent on Sonic hedgehog. Genes Dev. 2002;16:2365-78 pubmed..Taken together, our data support a model whereby auditory cell fates in the otic vesicle are established by the direct action of Shh. ..
- Dziarmaga A, Eccles M, Goodyer P. Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice. J Am Soc Nephrol. 2006;17:1568-75 pubmed..These observations lend strong support to the hypothesis that factors that control ureteric bud apoptosis are powerful determinants of congenital nephron endowment. ..
- Burton Q, Cole L, Mulheisen M, Chang W, Wu D. The role of Pax2 in mouse inner ear development. Dev Biol. 2004;272:161-75 pubmed
- Shi Y, Noll M. Determination of cell fates in the R7 equivalence group of the Drosophila eye by the concerted regulation of D-Pax2 and TTK88. Dev Biol. 2009;331:68-77 pubmed publisher..Thus, the fates of R1/R6/R7 and cone cells are determined by a dual mechanism that coordinately activates one fate while inhibiting the other. ..