Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases

Genes to Cells

Volumn 11, Issue 8, 2006, Pages 919-933

  Kanakubo, Sachiko ^a   Nomura, Tadashi ^a   Yamamura, Ken Ichi ^b   Miyazaki, Jun Ichi ^c   Tamai, Makoto ^a   Osumi, Noriko ^a,d  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; GREEN FLUORESCENT PROTEIN; TRANSCRIPTION FACTOR PAX6;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MIGRATION; CELLULAR DISTRIBUTION; COLOBOMA; CONCENTRATION RESPONSE; CONTROLLED STUDY; CORNEA OPACITY; DEVELOPMENTAL STAGE; DISEASE MODEL; EMBRYO; EMBRYO CULTURE; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; EYE DISEASE; EYE SYNECHIA; HETEROZYGOSITY; IMMUNOHISTOCHEMISTRY; MOUSE; NEURAL CREST CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA MALFORMATION; STATISTICAL ANALYSIS; TRANSGENIC MOUSE;

ANIMALS; BODY PATTERNING; CELL MOVEMENT; DISEASE MODELS, ANIMAL; EMBRYONIC DEVELOPMENT; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INTEGRASES; LOSS OF HETEROZYGOSITY; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MODELS, BIOLOGICAL; NEURAL CREST; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS;

MUS MUSCULUS;

EID: 33746158128     PISSN: 13569597     EISSN: 13652443     Source Type: Journal    
DOI: 10.1111/j.1365-2443.2006.00992.x     Document Type: Article

References (58)

1. Arai, Y., Funatsu, N., Numayama-Tsuruta, K., Nomura, T., Nakamura, S. & Osumi, N. (2005) Role of FABP-7, a downstream gene of Pax6, in the maintenance of neuroepithelial cells during early embryonic development of the rat cortex. J. Neurosci. 25, 9752-9761.
2. Azuma, N., Yamaguchi, Y., Handa, H., et al. (2003) Mutation of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am. J. Hum. Genet. 72, 1565-1570.
3. Baulmann, D.C., Ohlmann, A., Flugel-Koch, C., Goswami, S., Cvekl, A. & Tamm, E.R. (2002) Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities. Mech. Dev. 118, 3-17.
4. Chai, Y., Jiang, X., Ito, Y., et al. (2000) Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 127, 1671-1679.
5. Chauhan, B.K., Reed, N.A., Yang, Y., et al. (2002) A comparative cDNA analysis reveals a spectrum of genes regulated by Pax6 in mouse lens. Genes Cells 7, 1267-1283.
6. +/- mouse. Invest. Ophthalmol. Vis. Sci. 45, 1101-1108.
7. Creuzet, S., Vincent, C. & Couly, G. (2005) Neural crest derivatives in ocular and periocular structures. Int. J. Dev. Biol. 49, 161-171.
8. Cvekl, A. & Tamm, E.R. (2004) Anterior eye development and ocular mesenchyme: New insights from mouse models and human diseases. Bioessays 26, 374-386.
9. Danielian, P.S., Muccino, D., Rowitch, D.H., Michael, S.K. & McMahon, A.P. (1998) Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase. Curr. Biol. 8, 1323-1326.
10. Davis-Silberman, N., Kalich, T., Oron-Karni, V., et al. (2005) Genetic dissection of Pax6 dosage requirements in the developing mouse eye. Hum. Mol. Genet. 14, 2265-2276.
11. Etchevers, H.C., Vincent, C., Le Douarin, N.M. & Couly, G.F. (2001) The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 128, 1059-1068.
12. Fujiwara, M., Uchida, T., Osumi-Yamashita, N. & Eto, K. (1994) Uchida rat (rSey): A new mutant rat with craniofacial abnormalities resembling those of the mouse Sey mutant. Differentiation 57, 31-38.
13. Glaser, T., Jepeal, L., Edwards, J.G., Young, S.R., Favor, J. & Maas, R.L. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat. Genet. 7, 463-471.
14. Grant, W.M. & Walton, D.S. (1974) Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am. J. Ophthalmol. 78, 842-847.
15. Grindley, J.C., Davidson, D.R. & Hill, R.E. (1995) The role of Pax-6 in eye and nasal development. Development 121, 1433-1442.
16. Hanson, I.M., Fletcher, J.M., Jordan, T., et al. (1994) Mutations at the Pax6 locus are found in heterogeneous anterior segment malformations including Petersí anomaly. Nat. Genet. 6, 168-173.
17. Hanson, I. & Van Heyningen, V. (1995) Pax6: More than meets the eye. Trends Genet. 11, 268-272.
18. Hasegawa, S., Sato, T., Akazawa, H., et al. (2002) Apoptosis in neural crest cells by functional loss of APC tumor suppressor gene. Proc. Natl. Acad. Sci. USA 99, 297-302.
19. Hay, E.D., Linsenmayer, T.F., Trelstad, R.L. & von der Mark, K. (1979) Origin and distribution of collagens in the developing avian cornea. Curr. Top. Eye Res. 1, 1-35.
20. Hill, R.E., Favor, J., Hogan, B.L., et al. (1991) Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature 354, 522-525.
21. Hogan, B.L., Hirst, E.M., Horsburgh, G. & Hetherington, C.M. (1988) Small eye (Sey): A mouse model for the genetic analysis of craniofacial abnormalities. Development 103 (Suppl.), 115-119.
22. Inoue, T., Nakamura, S. & Osumi, N. (2000) Fate mapping of the mouse prosencephalic neural plate. Dev. Biol. 219, 373-383.
23. Jiang, X., Rowitch, D.H., Soriano, P., McMahon, A.P. & Sucov, H.M. (2000) Fate of the mammalian cardiac neural crest. Development 127, 1671-1679.
24. Johnston, M.C., Noden, D.M., Hazelton, R.D., Coulombre, J.L. & Coulombre, A.J. (1979) Origins of avian ocular and periocular tissues. Exp. Eye Res. 29, 27-43.
25. Kawamoto, S., Niwa, H., Tashiro, F., et al. (2000) A novel reporter mouse strain that express enhanced green fluorescent protein upon Cre-mediated recombination. FEBS Lett. 470, 263-268.
26. Kenyon, K.R. (1975) Mesenchymal dysgenesis in Peterís anomaly, sclerocornea and congenital endothelial dystrophy. Exp. Eye Res. 21, 124-142.
27. Korn, J., Christ, B. & Kurz, H. (2002) Neuroectodermal origin of brain pericytes and vascular smooth muscle cells. J. Comp. Neurol. 442, 78-88.
28. Lalani, S.R., Safiullah, A.M., Molinari, L.M., Fernbach, S.D., Martin, D.M. & Belmont, J.W. (2004) SEMA3E mutation in a patient with CHARGE syndrome. J. Medical Genet. 41, e94.
29. Le Douarin, N.M. & Kalcheim, C. (1999) The Neural Crest, 2nd edn. Cambridge, UK: Cambridge University Press.
30. Mackman, G., Brightbill, F.S. & Optiz, J.M. (1979) Corneal changes in aniridia. Am. J. Ophthalmol. 87, 497-502.
31. Matsuo, T., Osumi-Yamashita, N., Noji, S., et al. (1993) A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nat. Genet. 3, 299-304.
32. Matt, N., Dupe, V., Garnier, J.M., et al. (2005) Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells. Development 132, 4789-4800.
33. Meier, S. (1982) The distribution of cranial neural crest cells during ocular morphogenesis. Prog. Clin. Biol. Res. 82, 1-15.
34. Mirzayans, F., Pearce, W.G., MacDonald, I.M. & Walter, M.A. (1995) Mutation of PAX6 gene in patients with autosomal dominant keratitis. Am. J. Hum. Genet. 57, 539-548.
35. Nagase, T., Nakamura, S., Harii, K. & Osumi, N. (2001) Ectopically localized HNK-1 epitope perturbs migration of the midbrain neural crest cells in Pax6 mutant rat. Dev. Growth Differ. 43, 683-692.
36. Nakamura, H. (1982) Mesenchymal derivatives from the neural crest. Arch. Histol. Jpn. 45, 127-138.
37. Nishida, K., Kinoshita, S., Ohashi, Y., Kuwayama, Y. & Yamamoto, S. (1995) Ocular surface abnormalities in aniridia. Am. J. Ophthalmol. 120, 368-375.
38. Osborne, N.J., Begbie, J., Chilton, J.K., Schmidt, B.J. & Eickholt, B.J. (2005) Semaphorin/neuropilin signaling influences the positioning of migratory neural crest cells within the hindbrain region of the chick. Dev. Dyn. 232, 939-949.
39. Osumi, N., Hirota, A., Ohuchi, H., et al. (1997) Pax-6 is involved in the specification of hindbrain motor neuron subtype. Development 124, 2961-2972.
40. Osumi-Yamashita, N., Kuratani, S., Ninomiya, Y., et al. (1997) Cranial anomaly of homozygous rSey rat is associated with a defect in the migration pathway of midbrain crest cells. Dev. Growth Differ. 39, 53-67.
41. Osumi-Yamashita, N., Ninomiya, Y., Doi, H. & Eto, K. (1994) The contribution of both forebrain and midbrain crest cells to the mesenchyme in the frontnasal mass of mouse embryos. Dev. Biol. 164, 409-419.
42. Pietri, T., Eder, O., Blanche, M., Thiery, J.P. & Dufour, S. (2003) The human tissue plasminogen activator-Cre mouse: A new tool for targeting specifically neural crest cells and their derivatives in vivo. Dev. Biol. 259, 176-187.
43. Prosser, J. & Van Heyningen, V. (1998) PAX6 mutations revised. Hum. Mutat. 11, 93-108.
44. Quinn, J.C., West, J.D. & Kaufman, M.H. (1997) Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6Sey/Pax6Sey) mice. Anat. Embryol. (Berl) 196, 311-321.
45. +/- eye mimic human aniridia-related keratopathy. Invest. Ophthalmol. Vis. Sci. 44, 1871-1878.
46. Ramaesh, K., Ramaesh, T., Dutton, G.N. & Dhillon, B. (2005) Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. Int. J. Biochem. Cell Biol. 37, 547-557.
47. Serbedzija, G.N., Bronner-Fraser, M. & Fraser, S.E. (1992) Vital dye analysis of cranial neural crest cell migration in the mouse embryo. Development 116, 297-307.
48. Smith, A., Robinson, V., Patel, K. & Wilkinson, D.G. (1997) The EphA4 and EphB1 receptor tyrosine kinases and ephrin-B2 ligand regulate target migration of branchial neural crest cells. Curr. Biol. 7, 561-570.
49. Suemori, H., Kadodawa, Y., Goto, K., Araki, I., Kondoh, H. & Nakatsuji, N. (1990) A mouse embryonic stem cell line showing pluripotency of differentiation in early embryos and ubiquitous beta-galactosidase expression. Cell Differ. Dev. 29, 181-186.
50. Suzuki, R., Shintani, T., Sakuta, H., et al. (2000) Identification of RALDH-3, a novel retinaldehyde dehydrogenase expressed in the ventral region of the retina. Mech. Dev. 98, 37-50.
51. Tomita, Y., Matsumura, K., Wakamatsu, Y., et al. (2005) Cardiac neural crest cells contribute to the dormant multipotent stem cell in the mammalian heart. J. Cell Biol. 170, 1135-1146.
52. Ton, C.C., Hirvonen, H., Miwa, H., et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67, 1059-1074.
53. Trainor, P.A. & Tam, P.P. (1995) Cranial paraxial mesoderm and neural crest cells of the mouse embryo: Co-contribution in the craniofacial mesenchyme but distinct segregation in branchial arches. Development 121, 2569-2582.
54. Twigg, S.R., Kan, R., Babbs, C., et al. (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontnasal syndrome. Proc. Natl. Acad. Sci. USA 101, 8652-8657.
55. Vincent, M.C., Pujo, A.L., Olivier, D. & Calvas, P. (2003) Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur. J. Hum. Genet. 11, 163-169.
56. Yamauchi, Y., Abe, K., Mantani, A., et al. (1999) A novel transgenic technique that allows specific marking of the neural crest cell lineage in mice. Dev. Biol. 212, 191-203.
57. Yamazaki, H., Sakata, E., Yamane, T., et al. (2005) Presence and distribution of neural crest-derived cells in the murine developing thymus and their potential for differentiation. Int. Immunol. 17, 549-558.
58. Yu, H.H. & Moens, C.B. (2005) Semaphorin signaling guides cranial neural crest cell migration in zebrafish. Dev. Biol. 280, 373-385.