메뉴 건너뛰기




Volumn 70, Issue 1-2, 1998, Pages 155-166

Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently

Author keywords

Basic helix loop helix zipper protein; DOPAchrome tautomerase; Kit; Retinal pigment epithelium; Stria vascularis

Indexed keywords

HELIX LOOP HELIX PROTEIN; MONOPHENOL MONOOXYGENASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MITF; UNCLASSIFIED DRUG;

EID: 0031931010     PISSN: 09254773     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4773(97)00188-3     Document Type: Article
Times cited : (195)

References (45)
  • 1
    • 0010569593 scopus 로고
    • A partial biochemical and morphological description of the action of the gene Wh causing anophthalmia in the Syrian hamster
    • MA Thesis, California State College at Long Beach, USA, p.
    • Asher, J.H., Jr. 1968. A partial biochemical and morphological description of the action of the gene Wh causing anophthalmia in the Syrian hamster, Mesocricetus auratus, 1968. MA Thesis, California State College at Long Beach, USA, p. 360.
    • (1968) Mesocricetus Auratus , pp. 360
    • Asher J.H., Jr.1
  • 2
    • 0028027745 scopus 로고
    • Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator
    • Bentley N.J., Eisen T., Goding C.R. Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol. Cell. Biol. 14:1994;7996-8006.
    • (1994) Mol. Cell. Biol. , vol.14 , pp. 7996-8006
    • Bentley, N.J.1    Eisen, T.2    Goding, C.R.3
  • 3
    • 0023239229 scopus 로고
    • Morphology of melanocytes in hair bulbs and eyes of vitiligo mice
    • Boissy R.E., Moellmann G.E., Lenzer A.B. Morphology of melanocytes in hair bulbs and eyes of vitiligo mice. Am. J. Pathol. 127:1987;380-388.
    • (1987) Am. J. Pathol. , vol.127 , pp. 380-388
    • Boissy, R.E.1    Moellmann, G.E.2    Lenzer, A.B.3
  • 4
    • 0026176154 scopus 로고
    • Dilated rough endoplasmic reticulum and premature death in melanocytes cultured from the vitiligo mouse
    • Boissy R.E., Beato K.E., Nordlund J.J. Dilated rough endoplasmic reticulum and premature death in melanocytes cultured from the vitiligo mouse. Am. J. Pathol. 138:1991;1511-1525.
    • (1991) Am. J. Pathol. , vol.138 , pp. 1511-1525
    • Boissy, R.E.1    Beato, K.E.2    Nordlund, J.J.3
  • 5
    • 0028376333 scopus 로고
    • Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse
    • Cable J., Huszar D., Jaenisch R., Steel K.P. Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse. Pigment Cell Res. 7:1994;17-32.
    • (1994) Pigment Cell Res. , vol.7 , pp. 17-32
    • Cable, J.1    Huszar, D.2    Jaenisch, R.3    Steel, K.P.4
  • 6
    • 0023694835 scopus 로고
    • The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus
    • Chabot B., Stephenson D.A., Chapman V.M., Besmer B., Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature. 335:1988;88-89.
    • (1988) Nature , vol.335 , pp. 88-89
    • Chabot, B.1    Stephenson, D.A.2    Chapman, V.M.3    Besmer, B.4    Bernstein, A.5
  • 8
    • 0024280901 scopus 로고
    • The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
    • Geissler E.N., Ryan M.A., Housman D.E. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell. 55:1988;185-192.
    • (1988) Cell , vol.55 , pp. 185-192
    • Geissler, E.N.1    Ryan, M.A.2    Housman, D.E.3
  • 9
    • 0002780546 scopus 로고
    • Catalog of mutant genes and polymorphic loci
    • In: Lyon, M.F., Searle, A.G. (Eds.), Oxford University Press, New York, pp.
    • Green, M.C., 1989. Catalog of mutant genes and polymorphic loci. In: Lyon, M.F., Searle, A.G. (Eds.), Genetic Variants and Strains of the Laboratory Mouse. Oxford University Press, New York, pp. 12-403.
    • (1989) Genetic Variants and Strains of the Laboratory Mouse , pp. 12-403
    • Green, M.C.1
  • 10
    • 0010570505 scopus 로고
    • Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus
    • Grobman A.B., Charles D.R. Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J. Hered. 38:1947;381-384.
    • (1947) J. Hered. , vol.38 , pp. 381-384
    • Grobman, A.B.1    Charles, D.R.2
  • 12
    • 0001038810 scopus 로고
    • Neue Mutationen und Kopplungsgruppen bei der Hausmaus
    • Hertwig P. Neue Mutationen und Kopplungsgruppen bei der Hausmaus. Z. Indukt. Abstammungs-Vererbungsl. 80:1942;220-246.
    • (1942) Z. Indukt. Abstammungs-Vererbungsl. , vol.80 , pp. 220-246
    • Hertwig, P.1
  • 13
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    • Hodgkinson C.A., Moore K.J., Nakayama A., Steingrímsson E., Copeland N.G., Jenkins N.A., Arnheiter H. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 74:1993;395-404.
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3    Steingrímsson, E.4    Copeland, N.G.5    Jenkins, N.A.6    Arnheiter, H.7
  • 14
    • 0027386022 scopus 로고
    • A helix-loop-helix transcription factor-like gene is located at the mi locus
    • Hughes M.J., Lingrel J.B., Krakowsky J.M., Anderson K.P. A helix-loop-helix transcription factor-like gene is located at the mi locus. J. Biol. Chem. 268:1993;20687-20690.
    • (1993) J. Biol. Chem. , vol.268 , pp. 20687-20690
    • Hughes, M.J.1    Lingrel, J.B.2    Krakowsky, J.M.3    Anderson, K.P.4
  • 16
    • 0025850522 scopus 로고
    • Embryonic RNA expression patterns of the c-kit receptor and its cognate ligand suggest multiple functional roles in mouse development
    • Keshet E., Lyman S.D., Williams D.E., Anderson D.M., Jenkins N.A., Copeland N.G., Parada L.F. Embryonic RNA expression patterns of the c-kit receptor and its cognate ligand suggest multiple functional roles in mouse development. EMBO J. 10:1991;2425-2435.
    • (1991) EMBO J. , vol.10 , pp. 2425-2435
    • Keshet, E.1    Lyman, S.D.2    Williams, D.E.3    Anderson, D.M.4    Jenkins, N.A.5    Copeland, N.G.6    Parada, L.F.7
  • 17
    • 84984143387 scopus 로고
    • Anophthalmic albino: A new mutation in the Syrian hamster
    • Knapp B.H., Polivanov S. Anophthalmic albino: a new mutation in the Syrian hamster. Am. Naturalist. 92:1958;317-318.
    • (1958) Am. Naturalist , vol.92 , pp. 317-318
    • Knapp, B.H.1    Polivanov, S.2
  • 19
    • 0025027264 scopus 로고
    • Embryonic expression of a haematopoietic growth factor encoded by the S1 locus and the ligand for c-kit
    • Matsui Y., Zsebo K.M., Hogan B.L. Embryonic expression of a haematopoietic growth factor encoded by the S1 locus and the ligand for c-kit. Nature. 347:1990;667-669.
    • (1990) Nature , vol.347 , pp. 667-669
    • Matsui, Y.1    Zsebo, K.M.2    Hogan, B.L.3
  • 21
    • 0014104297 scopus 로고
    • Gene control of mammalian pigmentary differentiation, I. Clonal origin of melanocytes
    • Mintz B. Gene control of mammalian pigmentary differentiation, I. Clonal origin of melanocytes. Proc. Natl. Acad. Sci. USA. 58:1967;344-351.
    • (1967) Proc. Natl. Acad. Sci. USA , vol.58 , pp. 344-351
    • Mintz, B.1
  • 22
    • 0028789866 scopus 로고
    • Insight into the microphthalmia gene
    • Moore K.J. Insight into the microphthalmia gene. Trends Genet. 11:1995;442-448.
    • (1995) Trends Genet. , vol.11 , pp. 442-448
    • Moore, K.J.1
  • 23
    • 0027960698 scopus 로고
    • Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice
    • Motohashi H., Hozawa K., Oshima T., Takeuchi T., Takasaka T. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hear. Res. 80:1994;10-20.
    • (1994) Hear. Res. , vol.80 , pp. 10-20
    • Motohashi, H.1    Hozawa, K.2    Oshima, T.3    Takeuchi, T.4    Takasaka, T.5
  • 24
    • 0003928465 scopus 로고    scopus 로고
    • Mouse Genome Database (MGD), Jackson Laboratory, Bar Harbor, Maine, World Wide Web
    • Mouse Genome Database (MGD), 1997. Mouse Genome Informatics, Jackson Laboratory, Bar Harbor, Maine, World Wide Web (URL: http:/ /www.informatics jax.org/).
    • (1997) Mouse Genome Informatics
  • 25
    • 0024554047 scopus 로고
    • Microphthalmia: A new recessive mutation in the Norway rat
    • Moutier R., Ostrowski K., Lamendin H. Microphthalmia: a new recessive mutation in the Norway rat. J. Hered. 80:1989;76-78.
    • (1989) J. Hered. , vol.80 , pp. 76-78
    • Moutier, R.1    Ostrowski, K.2    Lamendin, H.3
  • 26
    • 0029099994 scopus 로고
    • Ultrastructural features of retinal dystrophy in mutant vitiligo mice
    • Nir I., Ransom N., Smith S.B. Ultrastructural features of retinal dystrophy in mutant vitiligo mice. Exp. Eye Res. 61:1995;363-377.
    • (1995) Exp. Eye Res. , vol.61 , pp. 363-377
    • Nir, I.1    Ransom, N.2    Smith, S.B.3
  • 27
    • 0003524176 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM), Johns Hopkins University, Baltimore, MD and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM (TM), 1997. Center for Medical Genetics, Johns Hopkins University, Baltimore, MD and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD. World Wide Web URL http:/ /www.ncbi.nlm.nih.gov/Omim/.
    • (1997) Center for Medical Genetics
  • 28
    • 0030746395 scopus 로고    scopus 로고
    • Melanocyte development in vivo and in neural crest cell cultures: Crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor
    • Opdecamp K., Nakayama A., Nguyen M.-T.T., Hodgkinson C.A., Pavan W.J., Arnheiter H. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development. 124:1997;2377-2386.
    • (1997) Development , vol.124 , pp. 2377-2386
    • Opdecamp, K.1    Nakayama, A.2    Nguyen, M.-T.T.3    Hodgkinson, C.A.4    Pavan, W.J.5    Arnheiter, H.6
  • 29
    • 0014098516 scopus 로고
    • The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus
    • Packer S.O. The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. J. Exp. Zool. 165:1967;21-46.
    • (1967) J. Exp. Zool. , vol.165 , pp. 21-46
    • Packer, S.O.1
  • 31
    • 0026079764 scopus 로고
    • A dominant negative form of transcription activator mTFE3 created by differential splicing
    • Roman C., Cohn L., Calame K. A dominant negative form of transcription activator mTFE3 created by differential splicing. Science. 254:1991;94-97.
    • (1991) Science , vol.254 , pp. 94-97
    • Roman, C.1    Cohn, L.2    Calame, K.3
  • 34
    • 0024314157 scopus 로고
    • Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear
    • Steel K.P., Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development. 107:1989;453-463.
    • (1989) Development , vol.107 , pp. 453-463
    • Steel, K.P.1    Barkway, C.2
  • 35
    • 0026446976 scopus 로고
    • TRP-2/DT a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor
    • Steel K.P., Davidson D.R., Jackson I.J. TRP-2/DT a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development. 115:1992;1111-1119.
    • (1992) Development , vol.115 , pp. 1111-1119
    • Steel, K.P.1    Davidson, D.R.2    Jackson, I.J.3
  • 38
    • 0030068826 scopus 로고    scopus 로고
    • The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nuclear localization potential
    • Takebayashi K., Chida K., Tsukamoto I., Morii E., Munakata H., Arnheiter H., Kuroki T., Kitamura Y., Nomura S. The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nuclear localization potential. Mol. Cell. Biol. 16:1996;1203-1211.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 1203-1211
    • Takebayashi, K.1    Chida, K.2    Tsukamoto, I.3    Morii, E.4    Munakata, H.5    Arnheiter, H.6    Kuroki, T.7    Kitamura, Y.8    Nomura, S.9
  • 39
    • 0029885819 scopus 로고    scopus 로고
    • Increased cell genesis in retinal pigment epithelium of perinataI vitiligo mutant mice
    • Tang M., Ruiz M., Kosaras B., Sidman R.L. Increased cell genesis in retinal pigment epithelium of perinataI vitiligo mutant mice. Invest. Ophthalmol. Vis. Sci. 37:1996;1116-1124.
    • (1996) Invest. Ophthalmol. Vis. Sci. , vol.37 , pp. 1116-1124
    • Tang, M.1    Ruiz, M.2    Kosaras, B.3    Sidman, R.L.4
  • 40
    • 0027943189 scopus 로고
    • MITF gene mutations in patients with Type 2 Waardenburg Syndrome
    • Tassabehji M., Newton V.E., Read A.P. MITF gene mutations in patients with Type 2 Waardenburg Syndrome. Nature Genet. 8:1994;251-255.
    • (1994) Nature Genet. , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 41
    • 0028051530 scopus 로고
    • Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
    • Yasumoto K.-I., Yokoyama K., Shibata K., Tomita Y., Shibahara S. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14:1994;8058-8070.
    • (1994) Mol. Cell. Biol. , vol.14 , pp. 8058-8070
    • Yasumoto, K.-I.1    Yokoyama, K.2    Shibata, K.3    Tomita, Y.4    Shibahara, S.5
  • 42
    • 0031032601 scopus 로고    scopus 로고
    • Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes
    • Yasumoto K.-I., Yokoyama K., Takahashi K., Tomita Y., Shibahara S. Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J. Biol. Chem. 272:1997;503-509.
    • (1997) J. Biol. Chem. , vol.272 , pp. 503-509
    • Yasumoto, K.-I.1    Yokoyama, K.2    Takahashi, K.3    Tomita, Y.4    Shibahara, S.5
  • 43
    • 0028816090 scopus 로고
    • The microphthalmia gene product interacts with the retinoblastoma protein in vitro and is a target for deregulation of melanocyte-specific transcription
    • Yavuzer U., Keenan E., Lowings P., Vachtenheim J., Currie G., Goding C.R. The microphthalmia gene product interacts with the retinoblastoma protein in vitro and is a target for deregulation of melanocyte-specific transcription. Oncogene. 10:1995;123-134.
    • (1995) Oncogene , vol.10 , pp. 123-134
    • Yavuzer, U.1    Keenan, E.2    Lowings, P.3    Vachtenheim, J.4    Currie, G.5    Goding, C.R.6
  • 44
    • 0028027790 scopus 로고
    • Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression
    • Yokoyama K., Yasumoto K.-I., Suzuki H., Shibahara S. Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression. J. Biol. Chem. 43:1994;27080-27087.
    • (1994) J. Biol. Chem. , vol.43 , pp. 27080-27087
    • Yokoyama, K.1    Yasumoto, K.-I.2    Suzuki, H.3    Shibahara, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.