Interpretation of complex phenotypes: Lessons from the Mitf gene

Pigment Cell and Melanoma Research

Volumn 23, Issue 6, 2010, Pages 736-740

  Steingrímsson, Eiríkur ^a  

^a UNIVERSITY OF ICELAND   (Iceland)

Author keywords

Complementation; Melanocyte; Microphthalmia; Mitf; Mutation

Indexed keywords

MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR;

ALLELE; CHEMICAL ANALYSIS; GENE LOCUS; GENE MUTATION; NONHUMAN; PHENOTYPE; REVIEW;

ALLELES; ANIMALS; FEMALE; MALE; MELANOCYTES; MICE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MICROPHTHALMOS; MODELS, GENETIC; MUTATION; PHENOTYPE; PIGMENTATION;

EID: 78049271352     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/j.1755-148X.2010.00769.x     Document Type: Review

References (23)

1. Arnheiter, H., Hou, L., Nguyen, M.-T.T., Bismuth, K., Csermely, T., Murakami, H., Skuntz, S., Liu, W., and K., B. (2008). MITF: a matter of life and death for developing melanocytes. In From Melanocytes to Melanoma: The Progression to Malignancy, V.J., Hearing, and S.P.L., Leong, eds. (Totowa, NJ: Humana Press), pp. 27-49.
2. Bismuth, K., Maric, D., and Arnheiter, H. (2005). MITF and cell proliferation: the role of alternative splice forms. Pigment Cell Res. 18, 349-359.
3. Cheli, Y., Ohanna, M., Ballotti, R., and Bertolotto, C. (2010). Fifteen-year quest for microphthalmia-associated transcription factor target genes. Pigment Cell Melanoma Res. 23, 27-40.
4. Dang, C.V., Dolde, C., Gillison, M.L., and Kato, G.J. (1992). Discrimination between related DNA sites by a single amino acid residue of Myc-related basic-helix-loop-helix proteins. Proc. Natl. Acad. Sci. U S A 89, 599-602.
5. Ferré-D'Amaré, A.R., Prendergast, G.C., Ziff, E.B., and Burley, S.K. (1993). Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain. Nature 363, 38-45.
6. Ferré-D'Amaré, A.R., Pognonec, P., Roeder, R.G., and Burley, S.K. (1994). Structure and function of the b/HLH/Z domain of USF. EMBO J. 13, 180-189.
7. Grobman, A.B., and Charles, D.R. (1947). Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J. Hered. 38, 381-384.
8. Grüneberg, H. (1952). The Genetics of the Mouse. (The Hague: Martinus Nijhoff).
9. Grüneberg, H. (1953). The relations of microphthalmia and white in the mouse. J. Genet. 51, 359-362.
10. 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. Genes Dev. 8, 2770-2780.
11. Hertwig, P. (1942). Neue Mutationen und Kopplungsgruppen bei der Hausmaus. Z. Indukt. Abstammungs-Vererbungsl. 80, 220-246.
12. Hollander, W.F. (1968). Complementary alleles at the mi-locus in the mouse. Genetics 60, 189.
13. Hou, L., and Pavan, W.J. (2008). Transcriptional and signaling regulation in neural crest-derived melanocyte development: do all roads lead to Mitf? Cell Res. 18, 1163-76.
14. Kennison, J.A., and Southworth, J.W. (2002). Transvection in Drosophila. Adv. Genet. 46, 399-420.
15. Konyukhov, B.V., and Osipov, V.V. (1968). Interallelic complementation of microphthalmia and white genes in mice. Genetika 4, 65-76.
16. Levy, C., Khaled, M., and Fisher, D.E. (2006). MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med. 12, 406-14.
17. Loercher, A.E., Tank, E.M., Delston, R.B., and Harbour, J.W. (2005). MITF links differentiation with cell cycle arrest in melanocytes by transcriptional activation of INK4A. J. Cell Biol. 168, 35-40.
18. Pirrotta, V. (1999). Transvection and chromosomal trans-interaction effects. Biochim. Biophys. Acta 1424, M1-M8.
19. Primot, A., Mogha, A., Corre, S. et al. (2009). ERK-regulated differential expression of the Mitf 6a/b splicing isoforms in melanoma. Pigment Cell Melanoma Res. 23, 93-102.
20. Steingrimsson, E., Moore, K.J., Lamoreux, M.L. et al. (1994). Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat. Genet. 8, 256-263.
21. Steingrimsson, E., Arnheiter, H., Hallsson, J.H., Lamoreux, M.L., Copeland, N.G., and Jenkins, N.A. (2003). Interallelic complementation at the mouse Mitf locus. Genetics 163, 267-276.
22. Steingrimsson, E., Copeland, N.G., and Jenkins, N.A. (2004). Melanocytes and the microphthalmia transcription factor network. Annu. Rev. Genet. 38, 365-411.
23. Takebayashi, K., Chida, K., Tsukamoto, I., Morii, E., Munakata, H., Arnheiter, H., Kuroki, T., Kitamura, Y., and Nomura, S. (1996). The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential. Mol. Cell. Biol. 16, 1203-1211.