Spontaneous transdifferentiation of quail pigmented epithelial cell is accompanied by a mutation in the Mitf gene

Developmental Biology

Volumn 196, Issue 2, 1998, Pages 145-159

  Mochii, Makoto ^a   Ono, Tamao ^b   Matsubara, Yasutaka ^a,b,c   Eguchi, Goro ^a,d  

^a NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

^b SHINSHU UNIVERSITY   (Japan)

^c Glico Dairy Co Ltd   (Japan)

^d KUMAMOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL DIFFERENTIATION; EMBRYO; GENE MUTATION; GENETIC TRANSFECTION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; QUAIL; RETINA DEVELOPMENT;

ANIMALIA; AVES; GALLUS GALLUS; PHASIANIDAE; VERTEBRATA;

EID: 0032523187     PISSN: 00121606     EISSN: None     Source Type: Journal    
DOI: 10.1006/dbio.1998.8864     Document Type: Article

References (59)

1. Agata, K., Kobayashi, H., Itoh, Y., Mochii, M., Sawada, K., and Eguchi, G. (1993). Genetic characterization of the multipotent dedifferentiated state of pigmented epithelial cells in vitro. Development 118, 1025-1030.
2. Agata, K., Yasuda, K., and Okada, S. T. (1984). Gene coding for a lens-specific protein, δ-crystallin, is transcribed in nonlens tissues of chicken embryo. Dev. Biol. 100, 222-226.
3. Bentley, N. J., Eisen, T., and Goding, C. R. (1994). Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator. Mol. Cell. Biol. 14, 7996-8006.
4. Bertolotto, C., Bille, K., Ortonne, J., and Ballotti, R. (1996). Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: Implication of the microphthalmia gene product. J. Cell Biol. 134, 747-755.
5. Chan, K. K., and Scholtz, C. L. (1988). The effect of the gene for microphthalmia (mi) on the dorsal lateral geniculate nucleus of the cinnamon mouse. Br. J. Exp. Pathol. 69, 255-264.
6. Cohen, T., Muller, R. N., Tomita, Y., and Shibahara, S. (1990). Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res. 18, 2807-2808.
7. Coulombre, J. L., and Coulombre, A. J. (1965). Regeneration of neural retina from the pigmented epithelium in the chick embryo. Dev. Biol. 12, 79-92.
8. Eguchi, G., and Kodama, R. (1993). Transdifferentiation. Curr. Opin. Cell Biol. 5, 1023-1028.
9. Eguchi, G., and Okada, T. S. (1973). Differentiation of lens tissue from the progeny of chick retinal pigment cell cultured in vitro: A demonstration of a switch of cell types in clonal cell culture. Proc. Natl. Acad. Sci. USA 70, 1495-1499.
10. Fuji, J., and Wakasugi, N. (1993). Transdifferentiation from retinal pigment epithelium (RPE) into neural retina due to silver plumage mutant gene in Japanese quail. Dev. Growth Differ. 35, 487-493.
11. Green, P. M., Marshall, M. J., and Nisbet, N. W. (1986). A study of osteoclasts on calvaria of normal and osteopetrotic (mi/mi) mice by vital staining with acridine orange. Br. J. Exp. Pathol. 67, 85-93.
12. Green, M. C. (1989). Catalog of mutant genes and polymorphic loci. In "Genetic Variants and Strains of the Laboratory Mouse" (M. F. Lyon and A. G. Searle, Eds.), pp. 12-403., Oxford Univ. Press.
13. Guillemot, F., and Cepko, C. L. (1992). Retinal fate and ganglion cell differentiation are potentiated by acidic FGF in an in vitro assay of early retinal development. Development 114, 743-754.
14. Hemesath, T. J., Steingrimsson, E., McGill, G., Hansen, M. J., Vaught, J., Hodgkinson, C. A., Arnheiter, H., Copeland, N. G., Jenkins, N. A., and Fisher, D. E. (1994). Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Cell 8, 2770-2780.
15. Hero, I. (1989). The optic fissure in the normal and microphthalmic mouse. Exp. Eye Res. 49, 229-239.
16. Hero, I., Farjah, M., and Scholtz, C. L. (1992). The effect of the microphthalmia gene on pre-natal optic nerve development in the mouse. Exp. Eye Res. 54, 161-171.
17. Hodgkinson, C. A., Moore, K. J., Nakayama, A., Steingrimsson, E., Copeland, N. G., Jenkins, N. A., and Arnheiter, H. (1993). Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74, 395-404.
18. Homma, K. (1971). Coturnix in biological research. Exp. Anim. 22, 131-137.
19. Hughes, M. J., Lingrel, J. B., Krakowsky, J. M., and Anderson, K. P. (1993). A helix-loop-helix transcription factor-like gene is located at the mi locus. J. Biol. Chem. 268, 20687-20690.
20. Hyuga, M., Kodama, R., and Eguchi, G. (1993). Basic fibroblast growth factor as one of the essential factors regulating lens transdifferentiation of pigmented epithelial cells. Int. J. Dev. Biol. 37, 319-326.
21. Iio, A., Mochii, M., Agata, K., Kodama, R., and Eguchi, G. (1994). Expression of the retinal pigmented epithelial cell-specific pP344 gene during development of the chicken eye and identification of its product. Dev. Growth Differ. 36, 155-164.
22. Itoh, Y., and Eguchi, G. (1986a). In vitro analysis of cellular metaplasia from pigmented epithelial cells to lens phenotype. A unique model system for studying cellular and molecular mechanisms of 'transdifferentiation.' Dev. Biol. 115, 353-362.
23. Itoh, Y., and Eguchi, G. (1986b). Enhancement of expression of lens phenotype in cultures of pigmented epithelial cells by hyaluronidase in the presence of phenylthiourea. Cell Differ. 18, 173-182.
24. Kasugai, T., Oguri, K., Jippo-Kanemoto, T., Morimoto, M., Yamatodani, A., Yoshida, K., Ebi, Y., Isozaki, K., Tei, H., Tsujimura, T., et al. (1993). Deficient differentiation of mast cells in the skin of mi/mi mice. Usefulness of in situ hybridization for evaluation of mast cell phenotype. Am. J. Pathol. 143, 1337-1347.
25. Kodama, R., and Eguchi, G. (1995). From lens regeneration in the newt to in-vitro transdifferentiation of vertebrate pigmented epithelial cells. Semin. Cell Biol. 6, 143-149.
26. Krakowsky, J. M., Boissy, R. E., Neumann, J. C., and Lingrel, J. B. (1993). A DNA insertional mutation results in microphthalmia in transgenic mice. Transgenic Res. 2, 14-20.
27. Lamoreux, M. L., Boissy, R. E., Womack, J. E., and Nordlund, J. J. (1992). The vit gene maps to the mi (microphthalmia) locus of the laboratory mouse. J. Hered. 83, 435-439.
28. Lopashov, G. (1963). "Developmental Mechanisms of Vertebrate Eye Rudiments (translated by J. Medawar)." Pergamon Press, Oxford.
29. Maniatis, T., Fritsch, F. E., and Sambrook, J. (1982). "Molecular Cloning." Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
30. Marusich, M. F., Furneaux, H. M., Henion, P., and Weston, J. A. (1994). Hu neural proteins are expressed in proliferating neurogenic cells. J. Neurobiol. 25, 143-155.
31. Mazaki, Y., Mochii, M., Kodama, R., and Eguchi, G. (1996). Role of integrins in differentiation of chick retinal pigmented epithelial cells in vitro. Deve. Growth Differ. 38, 429-437.
32. Mochii, M., Agata, K., and Eguchi, G. (1991). Complete sequence and expression of a cDNA encoding a chicken 115-kDa melanosomal matrix protein. Pigment Cell Res. 4, 41-47.
33. Mochii, M., Agata, K., Kobayashi, H., Yamamoto, T. S., and Eguchi, G. (1988). Expression of gene coding for a melanosomal matrix protein transcriptionally regulated in the transdifferentiation of chick embryo pigmented epithelial cells. Cell Differ. 24, 67-74.
34. Mochii, M., Iio, A., Yamamoto, H., Takeuchi, T., and Eguchi, G. (1992). Isolation and characterization of a chicken tyrosinase cDNA. Pigment Cell Res. 5, 162-167.
35. Mochii, M., Mazaki, Y., Mizuno, N., Hayashi, H., and Eguchi, G. (1998). Role of Mitf in differentiation and transdifferentiation of chicken pigmented epithelial cells. Dev. Biol. 193, 47-62.
36. Moore, K. J. (1995). Insight into the microphthalmia gene. Trends Genet. 11, 442-448.
37. Moscona, A. (1957). Formation of lentoids by dissociated retinal cells of the chick embryo. Science 125, 598-599.
38. Nii, A., Steingrimsson, E., Copeland, N. G., Jenkins, N. A., and Ward, J. M. (1995). Mild osteopetrosis in the microphthalmia-oak ridge mouse. A model for intermediate autosomal recessive osteopetrosis in humans. Am. J. Pathol. 147, 1871-1882.
39. Nobukuni, Y., Watanabe, A., Takeda, K., Skarka, H., and Tachibana, M. (1996). Analysis of loss-of-function mutations of the MITF gene suggests that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am. J. Hum. Genet. 58, 76-83.
40. Okada, T. S., Ito, Y., Watanabe, K., and Eguchi, G. (1975). Differentiation of lens in cultures of neural retinal cells of chick embryos. Dev. Biol. 45, 318-329.
41. Opdecamp, K., Nakayama, A., Nguyen, M. T., Hodgkinson, C. A., Pavan, W. J., and Arnheiter, H. (1997). Melanocyte development in vivo and in neural crest cultures: Crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124, 2377-2386.
42. Park, C. M., and Hollenberg, M. J. (1989). Basic fibroblast growth factor induces retinal regeneration in vivo. Dev. Biol. 134, 201-205.
43. Pittack, C., Jones, M., and Reh, T. (1991). Basic fibroblast growth factor induces retinal pigmented epithelium to generate neural retina in vitro. Development 113, 577-588.
44. Reh, T. A., and Pittack, C. (1995). Transdifferentiation and retinal regeneration. Semin. Cell Biol. 6, 137-142.
45. Sawada, K., Agata, K., and Eguchi, G. (1992). Crystallin gene expression in the process of lentoidgenesis in cultures of chicken lens epithelial cells. Exp. Eye Res. 55, 879-887.
46. Sawada, K., Agata, K., Yoshiki, A., and Eguchi, G. (1993). A set of anti-crystallin monoclonal antibodies for detecting lens specification: β-Crystallin as a specific marker for detecting lentoidgenesis in cultures of chicken lens epithelial cells. Jpn. J. Ophthalmol. 37, 355-368.
47. Scholtz, C. L., and Chan, K. K. (1987). Complicated colobomatous microphthalmia in the microphthalmic (mi/mi)mouse. Development 99, 501-508.
48. Shibahara, S., Tomita, Y., Sakakura, T., Nager, B., Chaudhuri, B., and Muller, R. (1986). Cloning and expression of cDNA encoding mouse tyrosinase. Nucleic Acids Res. 14, 2413-2427.
49. Smith, S. B., Bora, N., McCool, D., Kutty, G., Wong, P., Kutty, R. K., and Wiggert, B. (1995). Photoreceptor cells in the vitiligo mouse die by apoptosis. TRPM-2/clusterin expression is increased in the neural retina and in the retinal pigment epithelium. Invest. Ophthalmol. Vis. Sci. 36, 2193-2201.
50. Stechschulte, D. J., Sharma, R., Dileepan, K. N., Simpson, K. M., Aggarwal, N., Clancy, J., Jr., and Jilka, R. L. (1987). Effect of the mi allele on mast cells, basophils, natural killer cells, and osteoclasts in C57Bl/6J mice. J. Cell. Physiol. 132, 565-570.
51. Steingrimsson, E., Moore, K. J., Lamoreux, M. L., Ferre-D'Amare, A. R., Burley, S. K., Zimring, D. C., Skow, L. C., Hodgkinson, C. A., Arnheiter, H., Copeland, N. G., and Jenkis, A. J. (1994). Molecular basis of mouse microphthalmia (m i) mutations helps explain their developmental and phenotypic consequences. Nat. Genet. 8, 256-263.
52. Suemori, H., Kadokawa, Y., Goto, K., Araki, I., Kondoh, H., and Nakatsuji, N. (1990). A mouse embryonic stem cell line showing pluripotency of differentiation in early embryos and ubiquitous β-galactosidase expression. Cell Differ. Dev. 29, 181-186.
53. Tassabehji, M., Newton, V. E., and Read, A. P. (1994). Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat. Genet. 8, 251-255.
54. Turque, N., Denhez, F., Martin, P., Planque, N., Bailly, M., Begue, A., Stehelin, D., and Saule, S. (1996). Characterization of a new melanocyte-specific gene (QNR-71) expressed in v-myc-transformed quail neuroretina. EMBO J. 15, 3338-3350.
55. Yasuda, K. (1979). Transdifferentiation of "lentoid" structures in cultures derived from pigment epithelium was inhibited by collagen. Dev. Biol. 68, 374-378.
56. Yasumoto, K., Yokoyama, K., Shibata, K., Tomita, Y., and Shibahara, S. (1994). Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14, 8058-8070.
57. Yasumoto, K., Yokoyama, K., Shibata, K., Tomita, Y., and Shibahara, S. (1995). Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 15, 1833.
58. Yasumoto, K., Yokoyama, K., Takahashi, K., Tomita, Y., and Shibahara, S. (1997). Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J. Biol. Chem. 272, 503-509.
59. Yavuzer, U., Keenan, E., Lowings, P., Vachtenheim, J., Currie, G., and Goding, C. R. (1995). The microphthalmia gene product interacts with the retinoblastoma protein in vitro and is a target for deregulation of melanocyte-specific transcription. Oncogene 10, 123-134.