Regulation of PAX-6 gene transcription: Alternate promoter usage in human brain

Molecular Brain Research

Volumn 60, Issue 2, 1998, Pages 177-192

  Okladnova, Olga ^a   Syagailo, Yana V ^a   Mössner, Rainald ^a   Riederer, Peter ^a   Lesch, Klaus Peter ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Alternative promoter; Brain; Gene transcription; Human; Paired box gene; PAX 6

Indexed keywords

ARTICLE; BINDING SITE; CEREBELLUM CORTEX; DNA FLANKING REGION; GENE MAPPING; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; TRANSCRIPTION INITIATION; TRANSCRIPTION REGULATION;

3T3 CELLS; ADULT; ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; BRAIN; COS CELLS; DNA-BINDING PROTEINS; EXONS; EYE PROTEINS; GENE EXPRESSION REGULATION; GENOMIC LIBRARY; HOMEODOMAIN PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; ORGAN SPECIFICITY; OSTEOSARCOMA; PAIRED BOX TRANSCRIPTION FACTORS; PROMOTER REGIONS (GENETICS); RECOMBINANT FUSION PROTEINS; REGULATORY SEQUENCES, NUCLEIC ACID; REPRESSOR PROTEINS; RESTRICTION MAPPING; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, NUCLEIC ACID; TATA BOX; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0032190555     PISSN: 0169328X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0169-328X(98)00167-3     Document Type: Article

References (48)

1. Bebbe D. Homeobox genes and vertebrate eye development. Invest. Ophthalmol. Vis. Sci. 35:1994;2897-2900.
2. Chalepakis G., Stoykova A., Wijnholds J., Tremblay P., Gruss P. Pax: gene regulators in the developing nervous system. J. Neurobiol. 24:1993;1367-1384.
3. Chalepakis G., Wijholds J., Giese P., Gruss P. Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1. Cell Biol. 13:1994;891-900.
4. Chavrier P., Vesque C., Galliot B., Vigneron M., Dolle P., Duboule D., Charnay P. The segment-specific gene Krox-20 encodes a transcription factor with binding sites in the promoter region of the Hox-1.4 gene. EMBO J. 9:1990;1209-1218.
5. Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:1987;156-159.
6. Cvekl A., Piatigorsky J. Lens development and crystallin gene expression: many roles for PAX-6. Bioessays. 18:1996;621-630.
7. Czerny T., Busslinger M. DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5). Mol. Cell. Biol. 15:1995;2858-2871.
8. Czerny T., Schaffner G., Busslinger M. DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Genes Dev. 7:1993;2048-2061.
9. Desplan C., Chuong C.M., Levi G., Edelman G.M. The sequence specificity of homeodomain-DNA interaction. Cell. 54:1986;1081-1090.
10. Didier D.K., Schiffenbauer J., Woulfe S.L., Zacheis M., Schwartz B.D. Characterization of the cDNA encoding a protein binding to the major histocompatibility complex class II Y box. Proc. Natl. Acad. Sci. U.S.A. 85:1988;7322-7326.
11. Epstein J.A., 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. 269:1994;8355-8361.
12. Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D., Maas R. Two independent and interactive DNA-binding subdomain of the PAX-6 paired domain are regulated by alternative splicing. Genes Dev. 4:1994;444-463.
13. Fujiwara M., Uchida T., Osumi-Yamashita N., Eto K. Uchida rat (rSey): a new mutant rat with craniofacial abnormalities resembling those of the mouse sey mutant. Differentiation. 57:1994;31-38.
14. Garcia-Blanko M.A., Clere R.G., Sharp P.A. The DNA-binding homeo domain of the Oct-2 protein. Genes Dev. 3:1989;739-745.
15. Glaser T., Walton D.S., Maas R.L. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat. Genet. 2:1992;232-239.
16. Goldsmith M.E., Maden M.J., Morrow C.S., Cowan K.H. A Y-box consensus sequence is required for basal expression of human multidrug resistance (mdr1) gene. J. Biol. Chem. 268:1993;5856-5860.
17. Graw J. Genetic aspects of embryonic eye development in vertebrates. Dev. Genet. 18:1996;181-197.
18. Grindley J., Davidson D.R., Hill R.E. The role of Pax-6 in eye and nasal development. Dev. Suppl. 121:1995;1433-1442.
19. Hanson I.M. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters anomaly. Nat. Genet. 6:1994;168-173.
20. Hill R.E., Favor J., Hogan R.L.M., Ton C.C.T., Saunders G.F., Hanson I.M., Prosser J., Jordan T., Hastie N.D., van Heyningen V. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 354:1993;522-525.
21. Hogan B.L.M., Horsburgh G., Cohen J., Hetherington C.M., Fisher G., Lyon M.F. Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J. Embryol. 97:1986;95-110.
22. Jordan T., Hanson I., Zaletayev D., Hodgson S., Prosser J., Seawright A., Hastie N., van Heyningen V. The human PAX6 gene is mutated in two patients with aniridia. Nat. Genet. 1:1992;328-332.
23. Lesch K.P., Bengel D., Heils A., Sabol S.Z., Greenberg B.D., Petri S., Benjamin J., Müller C.R., Hamer D.H., D.L M. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science. 274:1996;1483-1487.
24. Maekawa T., Imamoto F., Merlino G.T., Pastan I., Ishii S. Cooperative function of two separate enhancers of the human epidermal growth factor receptor protooncogene. J. Biol. Chem. 264:1989;5488-5494.
25. Mastick G.S., Davis N.M., Andrews G.L., Easter S.S. Jr. Pax-6 functions in boundary formation and axon guidance in the embryonic mouse forebrain. Development. 124:1997;1985-1997.
26. Matsuo T., Osumi-Yamashita N., Noji S., Ohuchi H., Koyama E., Myoki F., Matsuo N., Taniguchi S., Doi H., Iseki S., Ninomiya Y., Fujiwara M., Watanabe T., Eto K. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nat. Genet. 3:1993;299-304.
27. Noll M. Evolution and role of Pax genes. Curr. Opin. Genet. Dev. 3:1993;595-605.
28. Okladnova O., Poleev A., Fantes J., Lee M., Plachov D., Horst J. The genomic organization of the murine Pax 8 gene and characterization of its basal promoter. Genomics. 42:1997;452-461.
29. Osumi N. Pax-6 is involved in the specification of hindbrain motor neuron subtype. Development. 124:1997;2961-2972.
30. Plaza S., Dozier C., Saule S. Quail PAX-6 (PAX-QNR) encodes a transcription factor able to bind and trans-activate its own promoter. Cell Growth Dev. 4:1993;1041-1050.
31. Plaza S., Dozier C., Turque N., Saule S. Quail PAX-6 (PAX-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation. Mol. Cell Biol. 15:1995;3344-3353.
32. Plaza S., Turque N., Dozier C., Bailly M., Saule S. C-Myb acts as transcriptional activator of the quail PAX6 (PAX-QNR) promoter through two different mechanisms. Oncogene. 10:1995;329-340.
33. Puvkun G., Finney M. Regulation of transcription and cell identity by POU domain proteins. Cell. 64:1991;475-478.
34. Quiring R. Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans. Science. 265:1994;785-789.
35. Rosenfeld M.G. POU-domain transcription factors: pou-er-ful developmental regulators. Genes Dev. 5:1991;897-907.
36. Sander M., German M.S. The beta-cell transcription factors and development of the pancreas. J. Mol. Med. 75:1997;327-340.
37. Sander M., Neubüser A., Kalamaras J., Ee H.C., Martin G.R., German M.S. Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone gene and islet development. Genes Dev. 11:1997;1662-1673.
38. Serfling E. Autoregulation: a common property of eukaryotic transcription factors? TIG. 5:1989;131-133.
39. Stoykova A., Fritsch R., Walter C., Gruss P. Forebrain patterning defects in small eye mutant mice. Development. 122:1996;3453-3465.
40. Stoykova A., Gruss P. Roles of Pax-genes in developing and adult brain as suggested by expression patterns. J. Neurosci. 14:1994;1395-1412.
41. Strachan T., Read A.P. PAX genes. Curr. Opin. Genet. Dev. 4:1994;427-438.
42. Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M., Royer-Pokora B., Collins F., Swaroop A., Strong L.C., Saunders G.F. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 67:1991;1059-1074.
43. Ton C.C.T., Miwa H., Saunders G.F. Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. Genomics. 13:1992;251-256.
44. Treisman J., Harris E., Wilson D., Desplan C. The homeodomain: a new face for the helix-turn-helix? Bioassays. 14:1992;145-150.
45. Tsukiyama T., Becker P.B., Wu C. ATP-dependent nucleosome disruption at a heat-shock promoter mediated by binding of GAGA transcription factor. Nature. 367:1994;525-532.
46. Walther C., Gruss P. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development. 113:1991;1435-1449.
47. Xu Z.P., Saunders G.F. Transcriptional regulation of the human PAX6 gene promoter. J. Biol. Chem. 272:1997;3430-3436.
48. Yamaguchi Y., Sawada Y.I., Yamada M., Handa H., Azuma N. Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. Genes to Cells. 2:1997;255-261.