Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice

Human Molecular Genetics

Volumn 9, Issue 11, 2000, Pages 1575-1585

  Semina, Elena V ^a   Murray, Jeffrey C ^a,b   Reiter, Rebecca ^b   Hrstka, Ronald F ^a   Graw, Jochen ^c  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA; TRANSCRIPTION FACTOR AP 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APHAKIA; ARTICLE; BINDING SITE; CHROMOSOME 19; CONTROLLED STUDY; DNA FLANKING REGION; EMBRYO; EYE DEVELOPMENT; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; HOMEOBOX; IN SITU HYBRIDIZATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0034234546     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.11.1575     Document Type: Article

References (66)

1. Livingston, P.M., Carson, C.A. and Taylor, H.R. (1995) The epidemiology of cataract: a review of the literature. Ophthalmol. Epidemiol., 2, 151-164.
2. Taylor, D. (1998) The Doyne Lecture. Congenital cataract: the history, the nature and the practice. Eye, 12, 9-36.
3. Smith, R.S., Sundberg, J.P. and Linder, C.C. (1997) Mouse mutations as models for studying cataracts. Pathobiology, 65, 146-154.
4. Varnum, D.S. and Stevens, L.C. (1968) Aphakia, a new mutation in the mouse. J. Hered., 59, 147-150.
5. Grimm, C., Chatterjee, B., Favor, J., Immervoll, T., Loster, J., Klopp, N., Sandulache, R. and Graw, J. (1998) Aphakia (ak), a mouse mutation affecting early eye development: fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression pattern. Dev. Genet., 23, 299-316.
6. Graw, J. (1999) Cataract mutations and lens development. Prog. Retin. Eye Res., 18, 235-267.
7. Semina, E.V., Reiter, R.S. and Murray, J.C. (1997) Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum. Mol. Genet., 6, 2109-2116.
8. Semina, E.V., Ferrell, R.E., Mintz-Hittner, H.A., Bitoun, P., Alward, W.L., Reiter, R.S., Funkhauser, C., Daack-Hirsch, S. and Murray, J.C. (1998) A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nature Genet., 19, 167-170.
9. Semina, E.V., Reiter, R., Leysens, N.J., Alward, W.L., Small, K.W., Datson, N.A., Siegel-Bartelt, J., Bierke-Nelson, D., Bitoun, P., Zabel, B.U. et al. (1996) Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet., 14, 392-399.
10. Mansour, S.J., Herbrick, J.A., Scherer, S.W. and Melancon, P. (1998) Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. Genomics, 54, 323-327.
11. Tvrdik, P., Asadi, A., Kozak, L.P., Nedergaard, J., Cannon, B. and Jacobsson, A. (1997) Cig30, a mouse member of a novel membrane protein gene family, is involved in the recruitment of brown adipose tissue. J. Biol. Chem., 272, 31738-31746.
12. Tvrdik, P., Asadi, A., Kozak, L.P., Nuglozeh, E., Parente, F., Nedergaard, J. and Jacobsson, A. (1999) Cig30 and Pitx3 genes are arranged in a partially overlapping tail-to-tail array resulting in complementary transcripts. J. Biol. Chem., 274, 26387-26392.
13. Matsuo, I. and Yasuda, K. (1992) The cooperative interaction between two motifs of an enhancer element of the chicken alpha A-crystallin gene, alpha CE1 and alpha CE2, confers lens-specific expression. Nucleic Acids Res., 20, 3701-3712.
14. Mitsuda, N., Roses, A.D. and Vitek, M.P. (1997) Transcriptional regulation of the mouse presenilin-1 gene. J. Biol. Chem., 272, 23489-23497.
15. Matsuo, I., Takeuchi, M. and Yasuda, K. (1992) Identification of the contact sites of a factor that interacts with motif I (alphaCE1) of the chicken alpha A-crystallin lens-specific enhancer. Biochem. Biophys. Res. Commun., 184, 24-30.
16. Pierrou, S., Hellqvist, M., Samuelsson, L., Enerback, S. and Carlsson, P. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J., 13, 5002-5012.
17. Mitchell, P.J., Timmons, P.M., Hebert, J.M., Rigby, P.W. and Tjian, R. (1991) Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis. Genes Dev., 5, 105-119.
18. Funahashi, J., Sekido, R., Murai, K., Kamachi, Y. and Kondoh, H. (1993) Delta-crystallin enhancer binding protein delta EF1 is a zinc finger-homeodomain protein implicated in postgastrulation embryogenesis. Development, 119, 433-446.
19. Tomarev, S.I., Duncan, M.K., Roth, H.J., Cvekl, A. and Piatigorsky, J. (1994) Convergent evolution of crystallin gene regulation in squid and chicken: the AP-1/ARE connection. J. Mol. Evol., 39, 134-143.
20. Morriss-Kay, G.M. (1996) Craniofacial defects in AP-2 null mutant mice. Bioessays, 18, 785-788.
21. West-Mays, J.A., Zhang, J., Nottoli, T., Hagopian-Donaldson, S., Libby, D., Strissel, K.J. and Williams, T. (1999) AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle. Dev. Biol., 206, 46-62.
22. Ring, B.Z., Cordes, S.P., Overbeek, P.A. and Barsh, G.S. (2000) Regulation of mouse lens fiber cell development and differentiation by the Maf gene. Development, 127, 307-317.
23. Zwaan, J. and Kirkland, B.M. (1975) Malorientation of mitotic figures in the early lens rudiment of aphakia mouse embryos. Anat. Rec., 182, 345-354.
24. Lanctot, C., Lamolet, B. and Drouin, J. (1997) The bicoid-related homeoprotein Ptx1 defines the most anterior domain of the embryo and differentiates posterior from anterior lateral mesoderm. Development, 124, 2807-2817.
25. Zerucha, T., Muller, J.P., Chartrand, N. and Ekker, M. (1997) Cross-interactions between two members of the Dlx family of homeobox-containing genes during zebrafish development. Biochem. Cell Biol., 75, 613-622.
26. Wang, W., Van De Water, T. and Lufkin, T. (1998) Inner ear and maternal reproductive defects in mice lacking the Hmx3 homeobox gene. Development, 125, 621-634.
27. Qu, S., Tucker, S.C., Zhao, Q., deCrombrugghe, B. and Wisdom, R. (1999) Physical and genetic interactions between A1x4 and Cart1. Development, 126, 359-369.
28. Kaestner, K.H., Knöchel, W. and Martinez, D.E. (2000) Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev., 14, 142-146.
29. Oliver, G., Loosli, F., Koster, R., Wittbrodt, J. and Gruss, P. (1996) Ectopic lens induction in fish in response to the murine homeobox gene Six3. Mech. Dev., 60, 233-239.
30. Zygar, C.A., Cook, T.L. and Grainger Jr, R.M. (1998) Gene activation during early stages of lens induction in Xenopus. Development, 125, 3509-3519.
31. Epstein, J., Cai, J., Glaser, T., Jepeal, L. and Maas, R. (1994) Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J. Biol. Chem., 269, 8355-8361.
32. Xu, P.X., Woo, I., Her, H., Beier, D.R. and Maas, R.L. (1997) Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development, 124, 219-231.
33. Kamachi, Y., Uchikawa, M., Collignon, J., Lovell-Badge, R. and Kondoh, H. (1998) Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction. Development, 125, 2521-2532.
34. Gehring, W.J. and Ikeo, K. (1999) Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet., 15, 371-377.
35. Jean, D., Ewan, K. and Gruss, P. (1998) Molecular regulators involved in vertebrate eye development. Mech. Dev., 76, 3-18.
36. Fini, M.E., Strissel, K.J. and West-Mays, J.A. (1997) Perspectives on eye development. Dev. Genet., 20, 175-185.
37. Saha, M.S., Servetnick, M. and Grainger, R.M. (1992) Vertebrate eye development. Curr. Opin. Genet. Dev., 2, 582-588.
38. Graw, J. (1996) Genetic aspects of embryonic eye development in vertebrates. Dev. Genet., 18, 181-197.
39. Haustein, J. (1983) On the ultrastructure of the developing and adult mouse corneal stroma. Anat. Embryol., 168, 291-305.
40. Koniukhov, B.V. and Nonchev, S.G. (1982) Interaction of the mutant aphakia, fidget and ocular retardation genes in mice. Genetika, 18, 1107-1114.
41. Bushby, K.M., Cleghorn, N.J., Curtis, A., Haggerty, I.D., Nicholson, L.V., Johnson, M.A., Harris, J.B. and Bhattacharya, S.S. (1991) Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. Hum. Genet., 88, 195-199.
42. Héon, E., Priston, M., Schorderet, D.F., Billingsley, G.D., Girard, P.O., Lubsen, N. and Munier, F.L. (1999) The γ-crystallins and human cataracts: a puzzle made clearer. Am. J. Hum. Genet., 65, 1261-1267.
43. Levinson, B., Conant, R., Schnur, R., Das, S., Packman, S. and Gitschier, J. (1996) A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol. Genet., 5, 1737-1742.
44. Timms, K.M., Huckett, L.E., Belmont, J.W., Shapira, S.K. and Gibbs, R.A. (1998) DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum. Mutat., 11, 121-126.
45. Kim, J.I., Li, T., Ho, I.C., Grusby, M.J. and Glimcher, L.H. (1999) Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development. Proc. Natl Acad. Sci. USA, 96, 3781-3785.
46. Kawauchi, S., Takahashi, S., Nakajima, O., Ogino, H., Morita, M., Nishizawa, M., Yasuda, K. and Yamamoto, M. (1999) Regulation of lens fiber cell differentiation by transcription factor c-Maf. J. Biol. Chem., 274, 19254-19260.
47. Ogino, H. and Yasuda, K. (1998) Induction of lens differentiation by activation of a bZIP transcription factor, L-Maf. Science, 280, 115-118.
48. Yoshida, K., Imaki, J., Koyama, Y., Harada, T., Shinmei, Y., Oishi, C., Matsushima-Hibiya, Y., Matsuda, A., Nishi, S., Matsuda, H. et al. (1997) Differential expression of maf-1 and maf-2 genes in the developing rat lens. Invest. Ophthalmol Vis. Sci., 38, 2679-2683.
49. Kaufmann, E. and Knochel, W. (1996) Five years on the wings of fork head. Mech. Dev., 57, 3-20.
50. Kenyon, K.L., Moody, S.A. and Jamrich, M. (1999) A novel fork head gene mediates early steps during Xenopus lens formation. Development, 126, 5107-5116.
51. Kidson, S.H., Kume, T., Deng, K., Winfrey, V. and Hogan, B.L. (1999) The forkhead/winged-helix gene, Mf 1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye. Dev. Biol., 211, 306-322.
52. Hogan, B.L., Hirst, E.M., Horsburgh, G. and Hetherington, C.M. (1988) Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities. Development, 103(suppl.), 115-119.
53. Theiler, K. and Varnum, D.S. (1981) Development of coloboma (Cm/+), a mutation with anterior lens adhesion. Anat. Embryol., 162, 121-126.
54. Grimes, P.A., Koeberlein, B., Favor, J., Neuhauser-Klaus, A. and Stambolian, D. (1998) Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8. Invest. Ophthalmol. Vis. Sci., 39, 1863-1869.
55. Sanyal, S. and Hawkins, R.K. (1979) Dysgenetic lens (dyl) - a new gene in the mouse. Invest. Ophthalmol. Vis. Sci., 18, 642-645.
56. Aso, S., Horiwaki, S. and Noda, S. (1995) Lens aplasia: a new mutation producing lens abnormality in the mouse. Lab. Anim. Sci., 45, 41-46.
57. Aso, S., Tashiro, M., Baba, R., Sawaki, M., Noda, S. and Fujita, M. (1998) Apoptosis in the lens anlage of the heritable lens aplastic mouse (lap mouse). Teratology, 58, 44-53.
58. Trabucchi, G., Piantanida, A., Bandello, F., Freschi, M., Nucci, P. and Brancato, R. (1997) Congenital aphakia in Peters' anomaly syndrome. A case report. Acta Ophthalmol. Scand., 75, 595-597.
59. Myles, W.M., Flanders, M.E., Chitayat, D. and Brownstein, S. (1992) Peters' anomaly: a clinicopathologic study. J. Pediatr. Ophthalmol. Strabismus, 29, 374-381.
60. Beauchamp, G.R. (1980) Anterior segment dysgenesis keratolenticular adhesion and aniridia. J. Pediatr. Ophthalmol. Strabismus, 17, 55-58.
61. Hill, R.E., Favor, J., Hogan, B.L., Ton, C.C., Saunders, G.F., Hanson, I.M., Prosser, J., Jordan, T., Hastie, N.D. and van Heyningen, V. (1991) Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature, 354, 522-525.
62. 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.
63. Gage, P.J., Sun, H. and Camper, S.A. (1999) Dosage requirement of Pitx2 for development of multiple organs. Development, 126, 4643-4651.
64. Kitamura, K., Miura, H., Miyagawa-Tomita, S., Yanazawa, M., Katoh-Fukui, Y., Suzuki, R., Ohuchi, H., Suehiro, A., Motegi, Y., Nakahara, Y. et al. (1999) Mouse pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra-and periocular mesoderm and right pulmonary isomerism. Development, 126, 5749-5758.
65. Lin, C.R., Kioussi, C., O'Connell, S., Briata, P., Szeto, D., Liu, F., Izpisua-Belmonte, J.C. and Rosenfeld, M.G. (1999) Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature, 401, 279-282.
66. Lu, M.F., Pressman, C., Dyer, R., Johnson, R.L. and Martin, J.F. (1999) Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature, 401, 276-278.