Sequence and location of SIX3, a homeobox gene expressed in the human eye

Ophthalmic Genetics

Volumn 20, Issue 1, 1999, Pages 7-21

  Leppert, Gregory S ^a   Yang, Jun Ming ^a   Sundin, Olof H ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

2p21 p22; Holoprosencephaly; Homeobox; Sine oculis; SIX3

Indexed keywords

TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CHROMOSOME 17; CHROMOSOME 2P; DEVELOPMENTAL GENETICS; EYE DEVELOPMENT; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; HOMEOBOX; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; INTRON; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA; SEQUENCE HOMOLOGY; SYNTENY;

ANIMALIA;

EID: 0032771296     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.1.7.2298     Document Type: Article

References (35)

1. Cheyette BNR, Green J, Martin K, Garren H, Hartenstein V, Zipursky SL. The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system. Neuron 1994;12:977-996.
2. Serikaku MC, O'Tousa JE. sine oculis is a homeobox gene required for Drosophila visual system development. Genetics 1994;138: 1137-1150.
3. Pignoni F, Hu B, Zavitz K, Xiao J, Garrity PA, Zipursky SL. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 1997;91:881-891.
4. Oliver G, Wehr R, Jenkins NA, Copeland NG, Cheyette BNR, Hartenstein V, Zipursky SL, Gruss P. Homeobox genes and connective tissue patterning. Development 1995;121:693-705.
5. Oliver G, Mailhos A, Wehr R, Copeland NG, Jenkins NA, Gruss P. Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development. Development 1995;121:4045-55.
6. Kawakami K, Ohto H, Ikeda K, Roeder RG. Structure, function and expression of a murine homeobox protein, AREC3, a homologue of Drosophila sine oculis gene product, and implication in development. Nucleic Acids Res 1996;24:303-310.
7. Heath SK, Carne S, Hoyle C, Johnson KJ, Wells DJ. Characterization of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum Mol Genet 1997;6:651-657.
8. Toy J, Yang J-M, Leppert GS, Sundin OH. The Optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific gene expression. Proc Natl Acad Sci USA 1998;95:10643-10648.
9. Gehring WJ. Homeo boxes in the study of development. Science 1987;236:1245-1252.
10. Walther C, Gruss P. Pax-6, a murine paired-box gene, is expressed in the developing CNS. Development 1991;113:1435-1449.
11. Burmeister M, Novak J, Liang M-Y, Basu S, Ploder L, Hawes NL, Vigden D, Hoover F, Goldman D, Kalnins VI, Roderick TH, Taylor BA, Hankin MR, McInnes RR. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 1996;12: 376-383.
12. Seo H-C, Drivenes O, Ellingsen S, Fjose A. Expression of two zebrafish homologues of the murine Six3 gene demarcates the initial eye primordia. Mech Dev 1998;73:45-57.
13. Oliver G, Loosli F, Koster R, Wittbrodt J, Gruss P. Ectopic lens induction in fish in response to the murine homeobox gene Six3. Mech Dev 1996;60:233-239.
14. Brodsky MC. Septo-optic dysplasia: a reappraisal. Semin Ophthalmol 1991;6:227-232.
15. Brodsky MC, Frindik JP. Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia. Am J Ophthalmol 1996;122:747-748.
16. Lee CC, Caskey CT. cDNA cloning using degenerate primers. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, editors. PCR Protocols. San Diego: Academic Press, 1990; Ch. 6.
17. Sternberg N, Ruether J, deRiel K. Generation of a 50,000-member human DNA library with an average DNA insert size of 75-100 kbp in a bacteriophage P1 cloning vector. New Biol 1990;2:151-162.
18. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: a Laboratory Manual. New York: Cold Spring Harbor Press, 1989.
19. Drwinga HL, Toji LH, Kim CH, Greene AE, Mulivor RA. NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics 1993;16:311-314.
20. Heng HHQ, Squire J, Tsui L-C. High-resolution mapping of mammalian genes by in situ hybridization of free chromatin. Proc Natl Acad Sci USA 1992;89: 9509-9513.
21. Heng HHQ, Tsui L-C. Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 1993;102: 325-332.
22. Green MR. Pre-mRNA splicing. Annu Rev Genet 1986;20:671-708.
23. Hazbun TR, Stahura FL, Mossing MC. Site-specific recognition by an isolated DNA-binding domain of the sine oculis protein. Biochemistry 1997;36:3680-3686.
24. Ptashne M, Gann A. Transcriptional activation by recruitment. Nature 1997;386:569-577.
25. Hunter T, Karin M. The regulation of transcription by phosphorylation. Cell 1992;70:375-387.
26. Kawakami K, Ohto H, Takizawa T, Saito T. Identification and expression of Six family genes in mouse retina. FEBS Lett 1996;393:259-263.
27. Piatigorsky J, Norman B, Jones R. Conservation of δ-crystallin gene structure between ducks and chickens. J Mol Evol 1987;25: 308-317.
28. Mulligan G, Guo W, Wormsley S, Hellfman D. Polypyrimidine tract binding protein interacts with sequences involved in alternative splicing of β-tropomyosin pre-mRNA. J Biol Chem 1992;267:25480-25487.
29. Valcarel J, Gebauer F. Post-transcriptional regulation: the dawn of PTB. Curr Biol 1997;7: R705-R708.
30. Kozak M. Determinants of translational fidelity and efficiency in vertebrate mRNAs. Biochimie 1994;76:815-821.
31. Schell U, Wienberg J, Kohler A, Bray-Ward P, Ward DE, Wilson WG, Allen WP, Lebel RR, Sawyer JR, Campbell PL, Aughton DJ, Punnett HH, Lammer EJ, Kao FT, Ward DC, Muenke M. Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. Hum Mol Genet 1996;5:223-239.
32. Adelmann HB. Experimental studies on the development of the eye. II. The eye forming potencies of the median portions of the urodelan neural plate. J Exp Zool 1929;54:291-371.
33. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA. Cyclopia and defective axial patterning in mice lacking the Sonic hedgehog gene function. Nature 1996;383:407-413.
34. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-360.
35. Dattani MT, Martinez-Barbera J-P, Thomas PQ, Brickman JM, Gupta R, Mårtenson I-L, Toresson H, Fox M, Wales JKH, Hindmarsh PC, Krauss S, Beddington RSP, Robinson ICAF. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-133.