Pax genes in renal development, disease and regeneration

Seminars in Cell and Developmental Biology

Volumn 44, Issue , 2015, Pages 97-106

  Sharma, Richa ^a   Sanchez Ferras, Oraly ^a   Bouchard, Maxime ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

CAKUT; Kidney and urinary tract development; Pax2; Pax8; Renal cell carcinoma; Wilms' tumor

Indexed keywords

PAIRED BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX2; TRANSCRIPTION FACTOR PAX5; TRANSCRIPTION FACTOR PAX8;

ENZYME REGULATION; GENE FUNCTION; GENE INDUCTION; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DISEASE; KIDNEY PARENCHYMA; MESONEPHROS; NEPHRON; NONHUMAN; PROTEIN FAMILY; REGENERATION; RENAL REGENERATION; REVIEW; UROGENITAL TRACT CANCER; ANIMAL; EMBRYOLOGY; GENETICS; KIDNEY; METABOLISM; PHYSIOLOGY;

ANIMALS; HUMANS; KIDNEY; PAIRED BOX TRANSCRIPTION FACTORS;

EID: 84947866199     PISSN: 10849521     EISSN: 10963634     Source Type: Journal    
DOI: 10.1016/j.semcdb.2015.09.016     Document Type: Review

References (142)

1. Dressler G.R. The cellular basis of kidney development. Annu. Rev. Cell Dev. Biol. 2006, 22:509-529.
2. Stewart K., Bouchard M. Coordinated cell behaviours in early urogenital system morphogenesis. Semin. Cell Dev. Biol. 2014.
3. Underhill D.A. PAX proteins and fables of their reconstruction. Crit. Rev. Eukaryot. Gene Expr. 2012, 22:161-177.
4. Treisman J., Harris E., Desplan C. The paired box encodes a second DNA-binding domain in the paired homeo domain protein. Genes Dev. 1991, 5:594-604.
5. Mansouri A., Hallonet M., Gruss P. Pax genes and their roles in cell differentiation and development. Curr. Opin. Cell Biol. 1996, 8:851-857.
6. Eberhard D., Jimenez G., Heavey B., Busslinger M. Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family. EMBO J. 2000, 19:2292-2303.
7. Blake J.A., Ziman M.R. Pax genes: regulators of lineage specification and progenitor cell maintenance. Development 2014, 141:737-751.
8. Eccles M.R., 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, 46:535-544.
9. Jonas J.B., Freisler K.A. Bilateral congenital optic nerve head pits in monozygotic siblings. Am. J. Ophthalmol. 1997, 124:844-846.
10. Hornby S.J., Adolph S., Gilbert C.E., Dandona L., Foster A. Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology 2000, 107:511-520.
11. Azuma N., Yamaguchi Y., Handa H., Tadokoro K., Asaka A., Kawase E., et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am. J. Hum. Genet. 2003, 72:1565-1570.
12. Epstein J., Cai J., Glaser T., Jepeal L., Maas R. Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J. Biol. Chem. 1994, 269:8355-8361.
13. Tekin M., Bodurtha J.N., Nance W.E., Pandya A. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?. Clin. Genet. 2001, 60:301-304.
14. Wollnik B., Tukel T., Uyguner O., Ghanbari A., Kayserili H., Emiroglu M., et al. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am. J. Med. Genet. A 2003, 122A:42-45.
15. Sanyanusin P., Schimmenti L.A., McNoe L.A., Ward T.A., Pierpont M.E., Sullivan M.J., et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat. Genet. 1995, 9:358-364.
16. Patel S.R., Ranghini E., Dressler G.R. Mechanisms of gene activation and repression by Pax proteins in the developing kidney. Pediatr. Nephrol. 2014, 29:589-595.
17. Patel S.R., Kim D., Levitan I., Dressler G.R. The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev. Cell 2007, 13:580-592.
18. Cai Y., Brophy P.D., Levitan I., Stifani S., Dressler G.R. Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation. EMBO J. 2003, 22:5522-5529.
19. Cai Y., Lechner M.S., Nihalani D., Prindle M.J., Holzman L.B., Dressler G.R. Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation. J. Biol. Chem. 2002, 277:1217-1222.
20. Carroll T.J., Park J.S., Hayashi S., Majumdar A., McMahon A.P. Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev. Cell 2005, 9:283-292.
21. Stark K., Vainio S., Vassileva G., McMahon A.P. Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4. Nature 1994, 372:679-683.
22. Osafune K., Takasato M., Kispert A., Asashima M., Nishinakamura R. Identification of multipotent progenitors in the embryonic mouse kidney by a novel colony-forming assay. Development 2006, 133:151-161.
23. Daniel J.A., Santos M.A., Wang Z., Zang C., Schwab K.R., Jankovic M., et al. PTIP promotes chromatin changes critical for immunoglobulin class switch recombination. Science 2010, 329:917-923.
24. Schwab K.R., Patel S.R., Dressler G.R. Role of PTIP in class switch recombination and long-range chromatin interactions at the immunoglobulin heavy chain locus. Mol. Cell. Biol. 2011, 31:1503-1511.
25. Patel S.R., Bhumbra S.S., Paknikar R.S., Dressler G.R. Epigenetic mechanisms of Groucho/Grg/TLE mediated transcriptional repression. Mol. Cell 2012, 45:185-195.
26. Abraham S., Paknikar R., Bhumbra S., Luan D., Garg R., Dressler G.R., et al. The Groucho-associated phosphatase PPM1B displaces Pax transactivation domain interacting protein (PTIP) to switch the transcription factor Pax2 from a transcriptional activator to a repressor. J. Biol. Chem. 2015, 290:7185-7194.
27. Costantini F., Shakya R. GDNF/Ret signaling and the development of the kidney. Bioessays 2006, 28:117-127.
28. Schell C., Wanner N., Huber T.B. Glomerular development - shaping the multi-cellular filtration unit. Semin. Cell Dev. Biol. 2014, 36:39-49.
29. Herzlinger D., Hurtado R. Patterning the renal vascular bed. Semin. Cell Dev. Biol. 2014, 36:50-56.
30. Bouchard M., Pfeffer P., Busslinger M. Functional equivalence of the transcription factors Pax2 and Pax5 in mouse development. Development 2000, 127:3703-3713.
31. Narlis M., Grote D., Gaitan Y., Boualia S.K., Bouchard M. Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney. J. Am. Soc. Nephrol. 2007, 18:1121-1129.
32. Bouchard M., Souabni A., Mandler M., Neubuser A., Busslinger M. Nephric lineage specification by Pax2 and Pax8. Genes Dev. 2002, 16:2958-2970.
33. Torres M., Gomez-Pardo E., Dressler G.R., Gruss P. Pax-2 controls multiple steps of urogenital development. Development 1995, 121:4057-4065.
34. Dressler G.R., Deutsch U., Chowdhury K., Nornes H.O., Gruss P. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 1990, 109:787-795.
35. Murawski I.J., Myburgh D.B., Favor J., Gupta I.R. Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouse. Am. J. Physiol. Renal Physiol. 2007, 293:F1736-F1745.
36. Sanyanusin P., McNoe L.A., Sullivan M.J., Weaver R.G., Eccles M.R. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum. Mol. Genet. 1995, 4:2183-2184.
37. Mansouri A., Chowdhury K., Gruss P. Follicular cells of the thyroid gland require Pax8 gene function. Nat. Genet. 1998, 19:87-90.
38. Carroll T.J., Vize P.D. Synergism between Pax-8 and lim-1 in embryonic kidney development. Dev. Biol. 1999, 214:46-59.
39. Buisson I., Le Bouffant R., Futel M., Riou J.F., Umbhauer M. Pax8 and Pax2 are specifically required at different steps of Xenopus pronephros development. Dev. Biol. 2015, 397:175-190.
40. Mauch T.J., Yang G., Wright M., Smith D., Schoenwolf G.C. Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm. Dev. Biol. 2000, 220:62-75.
41. Obara-Ishihara T., Kuhlman J., Niswander L., Herzlinger D. The surface ectoderm is essential for nephric duct formation in intermediate mesoderm. Development 1999, 126:1103-1108.
42. James R.G., Schultheiss T.M. Patterning of the avian intermediate mesoderm by lateral plate and axial tissues. Dev. Biol. 2003, 253:109-124.
43. James R.G., Schultheiss T.M. Bmp signaling promotes intermediate mesoderm gene expression in a dose-dependent, cell-autonomous and translation-dependent manner. Dev. Biol. 2005, 288:113-125.
44. Hu M.C., Mo R., Bhella S., Wilson C.W., Chuang P.T., Hui C.C., et al. GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development 2006, 133:569-578.
45. Tripathi P., Guo Q., Wang Y., Coussens M., Liapis H., Jain S., et al. Midline signaling regulates kidney positioning but not nephrogenesis through Shh. Dev. Biol. 2010, 340:518-527.
46. Tena J.J., Neto A., de la Calle-Mustienes E., Bras-Pereira C., Casares F., Gomez-Skarmeta J.L. Odd-skipped genes encode repressors that control kidney development. Dev. Biol. 2007, 301:518-531.
47. Mugford J.W., Sipila P., McMahon J.A., McMahon A.P. Osr1 expression demarcates a multi-potent population of intermediate mesoderm that undergoes progressive restriction to an Osr1-dependent nephron progenitor compartment within the mammalian kidney. Dev. Biol. 2008, 324:88-98.
48. Kuschert S., Rowitch D.H., Haenig B., McMahon A.P., Kispert A. Characterization of Pax-2 regulatory sequences that direct transgene expression in the Wolffian duct and its derivatives. Dev. Biol. 2001, 229:128-140.
49. Pfeffer P.L., Payer B., Reim G., di Magliano M.P., Busslinger M. The activation and maintenance of Pax2 expression at the mid-hindbrain boundary is controlled by separate enhancers. Development 2002, 129:307-318.
50. Boualia S.K., Gaitan Y., Tremblay M., Sharma R., Cardin J., Kania A., et al. A core transcriptional network composed of Pax2/8, Gata3 and Lim1 regulates key players of pro/mesonephros morphogenesis. Dev. Biol. 2013, 382:555-566.
51. Grote D., Boualia S.K., Souabni A., Merkel C., Chi X., Costantini F., et al. Gata3 acts downstream of beta-catenin signaling to prevent ectopic metanephric kidney induction. PLoS Genet. 2008, 4:e1000316.
52. Shawlot W., Behringer R.R. Requirement for Lim1 in head-organizer function. Nature 1995, 374:425-430.
53. Kobayashi A., Kwan K.M., Carroll T.J., McMahon A.P., Mendelsohn C.L., Behringer R.R. Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development. Development 2005, 132:2809-2823.
54. Tsang T.E., Shawlot W., Kinder S.J., Kobayashi A., Kwan K.M., Schughart K., et al. Lim1 activity is required for intermediate mesoderm differentiation in the mouse embryo. Dev. Biol. 2000, 223:77-90.
55. Potter S.S., Hartman H.A., Kwan K.M., Behringer R.R., Patterson L.T. Laser capture-microarray analysis of Lim1 mutant kidney development. Genesis 2007, 45:432-439.
56. Boualia S.K., Gaitan Y., Murawski I., Nadon R., Gupta I.R., Bouchard M. Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2. PLoS ONE 2011, 6:e21529.
57. Paces-Fessy M., Fabre M., Lesaulnier C., Cereghini S. Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis. Hum. Mol. Genet. 2012, 21:3143-3155.
58. Ogata T., Muroya K., Sasagawa I., Kosho T., Wakui K., Sakazume S., et al. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int. 2000, 58:2281-2290.
59. Lokmane L., Heliot C., Garcia-Villalba P., Fabre M., Cereghini S. vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development 2010, 137:347-357.
60. Bedell V.M., Person A.D., Larson J.D., McLoon A., Balciunas D., Clark K.J., et al. The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development. Development 2012, 139:793-804.
61. Chi X., Michos O., Shakya R., Riccio P., Enomoto H., Licht J.D., et al. Ret-dependent cell rearrangements in the Wolffian duct epithelium initiate ureteric bud morphogenesis. Dev. Cell 2009, 17:199-209.
62. Dressler G.R. Advances in early kidney specification, development and patterning. Development 2009, 136:3863-3874.
63. Skinner M.A., Safford S.D., Reeves J.G., Jackson M.E., Freemerman A.J. Renal aplasia in humans is associated with RET mutations. Am. J. Hum. Genet. 2008, 82:344-351.
64. Marcotte M., Sharma R., Bouchard M. Gene regulatory network of renal primordium development. Pediatr. Nephrol. 2014, 29:637-644.
65. Linton J.M., Martin G.R., Reichardt L.F. The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression. Development 2007, 134:2501-2509.
66. Muller U., Wang D., Denda S., Meneses J.J., Pedersen R.A., Reichardt L.F. Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell 1997, 88:603-613.
67. Brophy P.D., Ostrom L., Lang K.M., Dressler G.R. Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene. Development 2001, 128:4747-4756.
68. Xu P.X., Adams J., Peters H., Brown M.C., Heaney S., Maas R. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat. Genet. 1999, 23:113-117.
69. Xu P.X., Zheng W., Huang L., Maire P., Laclef C., Silvius D. Six1 is required for the early organogenesis of mammalian kidney. Development 2003, 130:3085-3094.
70. Wellik D.M., Hawkes P.J., Capecchi M.R. Hox11 paralogous genes are essential for metanephric kidney induction. Genes Dev. 2002, 16:1423-1432.
71. James R.G., Kamei C.N., Wang Q., Jiang R., Schultheiss T.M. Odd-skipped related 1 is required for development of the metanephric kidney and regulates formation and differentiation of kidney precursor cells. Development 2006, 133:2995-3004.
72. Xu J., Liu H., Park J.S., Lan Y., Jiang R. Osr1 acts downstream of and interacts synergistically with Six2 to maintain nephron progenitor cells during kidney organogenesis. Development 2014, 141:1442-1452.
73. Gong K.Q., Yallowitz A.R., Sun H., Dressler G.R., Wellik D.M. A Hox-Eya-Pax complex regulates early kidney developmental gene expression. Mol. Cell. Biol. 2007, 27:7661-7668.
74. Ranghini E.J., Dressler G.R. Evidence for intermediate mesoderm and kidney progenitor cell specification by Pax2 and PTIP dependent mechanisms. Dev. Biol. 2015, 399:296-305.
75. Costantini F., Kopan R. Patterning a complex organ: branching morphogenesis and nephron segmentation in kidney development. Dev. Cell 2010, 18:698-712.
76. Kobayashi A., Valerius M.T., Mugford J.W., Carroll T.J., Self M., Oliver G., et al. Six2 defines and regulates a multipotent self-renewing nephron progenitor population throughout mammalian kidney development. Cell Stem Cell 2008, 3:169-181.
77. Self M., Lagutin O.V., Bowling B., Hendrix J., Cai Y., Dressler G.R., et al. Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney. EMBO J. 2006, 25:5214-5228.
78. Rothenpieler U.W., Dressler G.R. Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 1993, 119:711-720.
79. Park J.S., Valerius M.T., McMahon A.P. Wnt/beta-catenin signaling regulates nephron induction during mouse kidney development. Development 2007, 134:2533-2539.
80. Torban E., Dziarmaga A., Iglesias D., Chu L.L., Vassilieva T., Little M., et al. PAX2 activates WNT4 expression during mammalian kidney development. J. Biol. Chem. 2006, 281:12705-12712.
81. Perantoni A.O., Timofeeva O., Naillat F., Richman C., Pajni-Underwood S., Wilson C., et al. Inactivation of FGF8 in early mesoderm reveals an essential role in kidney development. Development 2005, 132:3859-3871.
82. Plachov D., Chowdhury K., Walther C., Simon D., Guenet J.L., Gruss P. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 1990, 110:643-651.
83. Nakai S., Sugitani Y., Sato H., Ito S., Miura Y., Ogawa M., et al. Crucial roles of Brn1 in distal tubule formation and function in mouse kidney. Development 2003, 130:4751-4759.
84. Discenza M.T., He S., Lee T.H., Chu L.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, 22:8145-8155.
85. Ryan G., Steele-Perkins V., Morris J.F., Rauscher F.J., Dressler G.R. Repression of Pax-2 by WT1 during normal kidney development. Development 1995, 121:867-875.
86. Wagner K.D., Wagner N., Guo J.K., Elger M., Dallman M.J., Bugeon L., et al. An inducible mouse model for PAX2-dependent glomerular disease: insights into a complex pathogenesis. Curr. Biol. 2006, 16:793-800.
87. Dressler G.R., Douglass E.C. Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc. Natl. Acad. Sci. U. S. A. 1992, 89:1179-1183.
88. Dressler G.R. Patterning and early cell lineage decisions in the developing kidney: the role of Pax genes. Pediatr. Nephrol. 2011, 26:1387-1394.
89. Huang B., Pi L., Chen C., Yuan F., Zhou Q., Teng J., et al. WT1 and Pax2 re-expression is required for epithelial-mesenchymal transition in 5/6 nephrectomized rats and cultured kidney tubular epithelial cells. Cells Tissues Organs 2012, 195:296-312.
90. Imgrund M., Grone E., Grone H.J., Kretzler M., Holzman L., Schlondorff D., et al. Re-expression of the developmental gene Pax-2 during experimental acute tubular necrosis in mice 1. Kidney Int. 1999, 56:1423-1431.
91. Jiang Y., Jiang T., Ouyang J., Zhou Q., Liang Y., Cui Y., et al. Cell atavistic transition: paired box 2 re-expression occurs in mature tubular epithelial cells during acute kidney injury and is regulated by Angiotensin II. PLOS ONE 2014, 9:e93563.
92. Lindoso R.S., Verdoorn K.S., Einicker-Lamas M. Renal recovery after injury: the role of Pax-2. Nephrol. Dial. Transplant. 2009, 24:2628-2633.
93. Winyard P.J., Risdon R.A., Sams V.R., Dressler G.R., Woolf A.S. The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J. Clin. Invest. 1996, 98:451-459.
94. Hwang D.Y., Dworschak G.C., Kohl S., Saisawat P., Vivante A., Hilger A.C., et al. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014, 85:1429-1433.
95. Vivante A., Kohl S., Hwang D.Y., Dworschak G.C., Hildebrandt F. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr. Nephrol. 2014, 29:695-704.
96. Yosypiv I.V. Congenital anomalies of the kidney and urinary tract: a genetic disorder?. Int. J. Nephrol. 2012, 2012:909083.
97. Weber S. Novel genetic aspects of congenital anomalies of kidney and urinary tract. Curr. Opin. Pediatr. 2012, 24:212-218.
98. Rodriguez M.M. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). Fetal Pediatr. Pathol. 2014, 33:293-320.
99. Uetani N., Bouchard M. Plumbing in the embryo: developmental defects of the urinary tracts. Clin. Genet. 2009, 75:307-317.
100. Bower M., Salomon R., Allanson J., Antignac C., Benedicenti F., Benetti E., et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum. Mutat. 2012, 33:457-466.
101. Garcia Castano A., Perez de Nanclares G., Madariaga L., Aguirre M., Madrid A., Nadal I., et al. Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. PLOS ONE 2013, 8:e74673.
102. Favor J., Sandulache R., Neuhauser-Klaus A., Pretsch W., Chatterjee B., Senft E., et al. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc. Natl. Acad. Sci. U. S. A. 1996, 93:13870-13875.
103. 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, 17:1568-1575.
104. Saifudeen Z., Liu J., Dipp S., Yao X., Li Y., McLaughlin N., et al. A p53-Pax2 pathway in kidney development: implications for nephrogenesis. PLoS ONE 2012, 7:e44869.
105. de Miranda D.M., Dos Santos Junior A.C., Dos Reis G.S., Freitas I.S., Carvalho T.G., de Marco L.A., et al. PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux. Mol. Diagn. Ther. 2014, 18:451-457.
106. Ostrom L., Tang M.J., Gruss P., Dressler G.R. Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. Dev. Biol. 2000, 219:250-258.
107. Hewitt S.M., Hamada S., Monarres A., Kottical L.V., Saunders G.F., McDonnell T.J. Transcriptional activation of the bcl-2 apoptosis suppressor gene by the paired box transcription factor PAX8. Anticancer Res. 1997, 17:3211-3215.
108. Heidet L., Decramer S., Pawtowski A., Moriniere V., Bandin F., Knebelmann B., et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin. J. Am. Soc. Nephrol. 2010, 5:1079-1090.
109. Waggoner D.J., Chow C.K., Dowton S.B., Watson M.S. Partial monosomy of distal 10q: three new cases and a review. Am. J. Med. Genet. 1999, 86:1-5.
110. Shastry S.M., Kolte S.S., Sanagapati P.R. Potter's sequence. J. Clin. Neonatol. 2012, 1:157-159.
111. Humbert C., Silbermann F., Morar B., Parisot M., Zarhrate M., Masson C., et al. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am. J. Hum. Genet. 2014, 94:288-294.
112. Cai Q., Dmitrieva N.I., Ferraris J.D., Brooks H.L., van Balkom B.W., Burg M. Pax2 expression occurs in renal medullary epithelial cells in vivo and in cell culture, is osmoregulated, and promotes osmotic tolerance. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:503-508.
113. Monte N.M., Webster K.A., Neuberg D., Dressler G.R., Mutter G.L. Joint loss of PAX2 and PTEN expression in endometrial precancers and cancer. Cancer Res. 2010, 70:6225-6232.
114. Maeshima A., Maeshima K., Nojima Y., Kojima I. Involvement of Pax-2 in the action of activin A on tubular cell regeneration. J. Am. Soc. Nephrol. 2002, 13:2850-2859.
115. Zhang S.L., Guo J., Moini B., Ingelfinger J.R. Angiotensin II stimulates Pax-2 in rat kidney proximal tubular cells: impact on proliferation and apoptosis. Kidney Int. 2004, 66:2181-2192.
116. Shen W., Brown N.S., Finn P.F., Dice J.F., Franch H.A. Akt and mammalian target of rapamycin regulate separate systems of proteolysis in renal tubular cells. J. Am. Soc. Nephrol. 2006, 17:2414-2423.
117. Tong G.X., Yu W.M., Beaubier N.T., Weeden E.M., Hamele-Bena D., Mansukhani M.M., et al. Expression of PAX8 in normal and neoplastic renal tissues: an immunohistochemical study. Mod. Pathol. 2009, 22:1218-1227.
118. Cohen T., Loutochin O., Amin M., Capolicchio J.P., Goodyer P., Jednak R. PAX2 is reactivated in urinary tract obstruction and partially protects collecting duct cells from programmed cell death. Am. J. Physiol. Renal Physiol. 2007, 292:F1267-F1273.
119. Torban E., Eccles M.R., Favor J., Goodyer P.R. PAX2 suppresses apoptosis in renal collecting duct cells. Am. J. Pathol. 2000, 157:833-842.
120. Jiang Y.S., Jiang T., Huang B., Chen P.S., Ouyang J. Epithelial-mesenchymal transition of renal tubules: divergent processes of repairing in acute or chronic injury?. Med. Hypotheses 2013, 81:73-75.
121. Ordonez N.G. Value of PAX2 immunostaining in tumor diagnosis: a review and update. Adv. Anat. Pathol. 2012, 19:401-409.
122. Ozcan A., de la Roza G., Ro J.Y., Shen S.S., Truong L.D. PAX2 and PAX8 expression in primary and metastatic renal tumors: a comprehensive comparison. Arch. Pathol. Lab. Med. 2012, 136:1541-1551.
123. Li C.G., Eccles M.R. PAX genes in cancer; friends or foes?. Front. Genet. 2012, 3:6.
124. Wang H., Yang H., Shivalila C.S., Dawlaty M.M., Cheng A.W., Zhang F., et al. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell 2013, 153:910-918.
125. Waters L., Crumley S., Truong L., Mody D., Coffey D. PAX2 and PAX8: useful markers for metastatic effusions. Acta Cytol. 2014, 58:60-66.
126. Xiang L., Kong B. PAX8 is a novel marker for differentiating between various types of tumor, particularly ovarian epithelial carcinomas. Oncol. Lett. 2013, 5:735-738.
127. Wu H., Chen Y., Liang J., Shi B., Wu G., Zhang Y., et al. Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis. Nature 2005, 438:981-987.
128. Luu V.D., Boysen G., Struckmann K., Casagrande S., von Teichman A., Wild P.J., et al. Loss of VHL and hypoxia provokes PAX2 up-regulation in clear cell renal cell carcinoma. Clin. Cancer Res. 2009, 15:3297-3304.
129. Gnarra J.R., Dressler G.R. Expression of Pax-2 in human renal cell carcinoma and growth inhibition by antisense oligonucleotides. Cancer Res. 1995, 55:4092-4098.
130. Hueber P.A., Iglesias D., Chu L.L., Eccles M., Goodyer P. In vivo validation of PAX2 as a target for renal cancer therapy. Cancer Lett. 2008, 265:148-155.
131. Muratovska A., Zhou C., He S., Goodyer P., Eccles M.R. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene 2003, 22:7989-7997.
132. Zhang L.P., Shi X.Y., Zhao C.Y., Liu Y.Z., Cheng P. RNA interference of pax2 inhibits growth of transplanted human endometrial cancer cells in nude mice. Chin. J. Cancer 2011, 30:400-406.
133. Friedman A.D. Wilms tumor. Pediatr. Rev. 2013, 34:328-330. (discussion 30).
134. Huff V. Wilms' tumours: about tumour suppressor genes, an oncogene and a chameleon gene. Nat. Rev. Cancer 2011, 11:111-121.
135. Kreidberg J.A., Sariola H., Loring J.M., Maeda M., Pelletier J., Housman D., et al. WT-1 is required for early kidney development. Cell 1993, 74:679-691.
136. Dehbi M., Ghahremani M., Lechner M., Dressler G., Pelletier J. The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1). Oncogene 1996, 13:447-453.
137. Dehbi M., Pelletier J. PAX8-mediated activation of the wt1 tumor suppressor gene. EMBO J. 1996, 15:4297-4306.
138. Tagge E.P., Hanson P., Re G.G., Othersen H.B., Smith C.D., Garvin A.J. Paired box gene expression in Wilms' tumor. J. Pediatr. Surg. 1994, 29:134-141.
139. Stuart E.T., Haffner R., Oren M., Gruss P. Loss of p53 function through PAX-mediated transcriptional repression. EMBO J. 1995, 14:5638-5645.
140. Fonsato V., Buttiglieri S., Deregibus M.C., Puntorieri V., Bussolati B., Camussi G. Expression of Pax2 in human renal tumor-derived endothelial cells sustains apoptosis resistance and angiogenesis. Am. J. Pathol. 2006, 168:706-713.
141. Doberstein K., Pfeilschifter J., Gutwein P. The transcription factor PAX2 regulates ADAM10 expression in renal cell carcinoma. Carcinogenesis 2011, 32:1713-1723.
142. Li C.G., Nyman J.E., Braithwaite A.W., Eccles M.R. PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein. Oncogene 2011, 30:4824-4834.