Alternatively spliced insertions in the paired domain restrict the DNA sequence specificity of Pax6 and Pax8

EMBO Journal

Volumn 16, Issue 22, 1997, Pages 6793-6803

  Kozmik, Zbynek ^a,b   Czerny, Thomas ^a   Busslinger, Meinrad ^a  

^a RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^b INSTITUTE OF MATHEMATICS   (Czech Republic)

Author keywords

Alternative splicing; DNA binding; Paired domain; Pax6; Pax8

Indexed keywords

SERINE; TRANSCRIPTION FACTOR;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA BINDING; DNA RESPONSIVE ELEMENT; DNA SEQUENCE; HUMAN; HUMAN CELL; MOLECULAR RECOGNITION; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN VARIANT;

MAMMALIA;

EID: 0030832612     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/16.22.6793     Document Type: Article

References (48)

1. Adams,B., Dörfler, P., Aguzzi,A., Kozmik,Z., Urbánek,P., Maurer-Fogy,I. and Busslinger.M. (1992) Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS. and adult testis. Genes Dev., 6, 1589-1607.
2. Barberis,A., Superti-Furga,G., Vitelli,L., Kemler,I. and Busslinger,M. (1989) Developmental and tissue-specific regulation of a novel transcription factor of the sea urchin. Genes Dev., 3, 663-675.
3. Bertuccioli,C., Hasano,L., Jun,S., Wang,S., Sheng,G. and Desplan,C. (1996) In vivo requirement for the paired domain and homeodomain of the paired segmentation gene product. Development, 122, 2673-2685.
4. Bickmore,W.A., Oghene,K., Little,M.H., Seawright,A., van Heyningen,V. and Hastie,N.D. (1992) Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wtl gene transcript. Science, 257, 235-237.
5. Bopp,D., Burri,M., Baumgartner,S., Frigerio,G. and Noll,M. (1986) Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila, Cell, 47, 1033-1040.
6. Busslinger,M., Klix,N., Pfeffer,P., Graninger,P.G. and Kozmik,Z. (1996) Deregulation of PAX-5 by translocation of the Em enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma. Proc. Natl Acad. Sci. USA, 93, 6129-6134.
7. Cai,J., Lan,Y., Appel,L.F. and Weir,M. (1994) Dissection of the Drosophila Paired proteins: functional requirements for conserved motifs. Mech. Dev., 47, 139-150.
8. Chalepakis,G., Fritsch,R., Fickenscher,H., Deutsch,U., Goulding,M. and Gruss,P. (1991) The molecular basis of the undulated/Pax-1 mutation. Cell. 66, 873-884.
9. Czemy,T. and Busslinger,M. (1995) 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, 2858-2871.
10. Czemy,T., Schaffner,G. and Busslinger,M. (1993) DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Genes Dev., 7, 2048-2061.
11. Dörfler,P. and Busslinger,M. (1996) C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5), Pax-2 and Pax-8. EMBO J., 15, 1971-1982.
12. Dozier,C., Carrière,C., Grévin,D., Martin,P., Quatannens,B., Stéhelin,D. and Saule,S. (1993) Structure and DNA-binding properties of Pax-QNR, a paired box- and homeobox-containing gene. Cell Growth Differ, 4, 281-289.
13. Epstein,J.A., Glaser,T., Cai,J., Jepeal,L., Walton,D.S. and Maas,R.L. (1994a) Two independent and interactive DNA-binding suhdomains ot the Pax6 paired domain are regulated by alternative splicing. Genev Dev., 8, 2022-2034.
14. Epstein,J., Cai,J., Glaser,T., Jepeal,L. and Maas,R. (1994b) Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J. Biol. Chem. 269, 8355-8361
15. Feng,J.-A., Johnson,R.C. and Dickerson,R.E. (1994) Hin recombinase bound to DNA: the origin of specificity in major and minor groove interactions. Science, 263, 348-355.
16. Foulkes,N.S. and Sassone-Corsi,P. (1992) More is belter: activators and repressors from the same gene. Cell, 68, 411-414.
17. Glaser,T., Walton,D.S. and Maas,R.L. (1992) Genomic structure. evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet., 2, 232-239.
18. Gogos,J.A., Hsu,T., Bolton,J. and Kafatos,F.C. (1992) Sequence discrimination by alternatively spliced isoforms of a DNA binding zinc finger domain. Science, 257, 1951-1955.
19. Goring,D.R., Bryce,D.M., Tsui,L.-C., Breitman,M.L. and Liu,Q. (1993) Developmental regulation and cell type-specific expression of the murine γF-crystallin gene is mediated through a lens-specific element containing the γF-1 binding site. Dev. Dyn., 196, 143-152.
20. Grindley,J.C., Davidson,D.R. and Hill,R.E. (1995) The role of Pax-6 in eye and nasal development. Development, 121, 1433-1442.
21. Halder,G., Callaerts,P. and Gehring,W. (1995) Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science, 267, 1788-1792.
22. Hanson,I.M., Fletcher,J.M., Jordan,T., Brown,A., Taylor,D., Adams,R.J., Punnett,H.H. and van Heyningen,V. (1994) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet., 6, 168-173.
23. Hill,R.E. et al. (1991) Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature, 354, 522-525.
24. Hochuli,E., Bannwarth,W., Döbeli,H., Gentz,R. and Stüber,D. (1988) Genetic approach to facilitate purification of recombinant proteins with a novel metal chelate absorbent. BinTechnology, 6, 1321-1325.
25. Jun,S. and Desplan,C. (1996) Cooperative interactions between paired domain and homeodomain. Development, 122, 2639-2650.
26. Kozmik,Z., Kurbauer,R., Dörfler,P. and Busslinger,M. (1993) Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties. Mol. Cell. Biol., 13, 6024-6035.
27. Lok,S., Stevens,W., Breitman,M.L. and Tsui,L.-C. (1989) Multiple regulatory elements of the munne γ2-crystallin promoter. Nucleic Acids Res., 17, 3563-3582.
28. McKeown,M. (1992) Alternative mRNA splicing. Annu. Rev. Cell Biol., 8, 133-155.
29. Plachov,D., Chowdhury,K., Walther,C., Simon,D., Guenet, J.L. and Gruss,P. (1990) Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development, 110, 643-651.
30. Pratl,M.A.C., Kralova,J. and McBurney,M.W. (1990) A dominant negative mutation of the alpha retinoic acid receptor gene in a retinoic acidnonresponsive embryonal carcinoma cell. Mol. Cell. Biol., 10, 6445-6453.
31. Püschel,A.W., Gruss,P. and Westerfield,M. (1992) Sequence and expression pattem of pax-6 are highly conserved between zebrafish arid mice. Development, 114, 643-651.
32. Quiring,R., Walldorf,U., Kloter,U. and Gehring,W.J. (1994) Homology of the eyeless gene of Drosophila to the Small eye gene in mice and aniridia in humans. Science, 265, 785-789.
33. Read,D. and Manley,J.L. (1992) Alternatively spliced transcripts of the Drosophila tramtrack gene encode zinc finger proteins with distinct DNA binding specificities. EMBO J., 11, 1035-1044.
34. Stapleton,P., Weith,A., Urbánek,P., Kozmik,Z. and Busslinger,M. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nature Genet., 3, 292-298.
35. Stephens,R.M. and Schneider,T.D. (1992) Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J. Mol. Biol., 228, 1124-1136.
36. St-Onge,L., Sosa-Pineda,B., Chowdhury,K., Mansouri,A. and Gruss,P. (1997) Pax6 is required for differentiation of glucagon-producing α-cells in mouse pancreas. Nature, 387, 406-409.
37. Strachan,T. and Read,A.P. (1994) PAX genes. Curr. Opin. Genet. Dev., 4, 427-438.
38. Stuart,K.T., Kioussi,C. and Gruss,P. (1994) Mammalian PAX genes. Annu. Rev. Genet., 28, 219-236.
39. Studier,W., Rosenberg,A.H., Dunn,J.J. and Dubendorff,J.W. (1990) Use of T7 RNA polymerase to direct expression of cloned genes. Methods Enzymol., 185, 60-89.
40. Ton,C.C.T. et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell, 67, 1059-1074.
41. Treacy,M.N., Neilson,L.I., Tumer,E.E., He,X. and Rosenfeld,M.G. (1992) Twin of I-POU: a two amino acid difference in the I-POU homeodomain distinguishes an activator form an inhibitor of transcription. Cell, 68, 491-505.
42. Treisman,J., Harris,E. and Desplan,C. (1991) The paired box encodes a second DNA-binding domain in the Paired homeo domain protein. Genes Dev., 5, 594-604.
43. Triezenberg,S.J., Kingsbury,R.C., and McKnight,S.L. (1988) Functional dissection of VP16, the trans-activator of herpes simplex virus immediate early gene expression. Genes Dev., 2, 718-729.
44. Vitelli,L., Kemler,I., Lauber,B., Bimstiel,M.L. and Busslinger,M. (1988) Developmental regulation of micro-injected histone genes in sea urchin embryos. Dev. Biol., 127, 54-63.
45. Vogan,K.J., Underhill,D.A. and Gros,P. (1996) An alternative splicing event in the Pax-3 paired domain identities the linker region as a key determinant of paired domain DNA-binding activity. Mol. Cell. Biol., 16, 6677-6686.
46. Walther,C. and Gruss,P. (1991) Pax-6, a munne paired box gene, is expressed in the developing CNS. Development, 113, 1435-1449.
47. Walther,C. Guenet,J.L., Simon,D., Deutsch,U., Jostes,B., Goulding,M.D., Plachov,D., Balling,R. and Gruss,P. (1991) Pax: a murine multigene family of paired box-containing genes. Genomics, 11, 424-434.
48. Xu,W., Rould,M.A., Jun,S., Desplan,C. and Pabo,C.O. (1995) Crystal structure of the paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell, 80, 639-650.