References
Ferré-D’Amaré AR, Prendergast GC, Ziff EB, Burley SK (1993) Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain. Nature 363, 38–45
Ferré-D’Amaré AR, Pognonec P, Roeder RG, Burley SK (1994) Structure and function of the b/HLH/Z domain of USF. EMBO J 13, 180–189
Hemesath TJ, Steingrímsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DE (1994) crophthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8, 2770–2780
Hodgkinson CA, Moore KJ, Nakayama A, Steingrímsson E, Copeland NG, Jenkins NA, 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
Hughes MJ, Lingrel JB, Krakowsky JM, Anderson KP (1993) A helix-loop-helix transcription factor-like gene is located at the mi locus. J Biol Chem 268, 20687–20690
Lim WA, Sauer RT (1991) The role of internal packing interactions in determining the structure and stability of a protein. J Mol Biol 219, 359–376
Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM (1997) Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics 145, 435–443
Moore KJ (1995) Insight into the microphthalmia gene. Trends Genet 11, 442–448
Shirakata M, Friedman FK, Wei Q, Paterson BM (1993) Dimerization specificity of myogenic helix-loop-helix DNA-binding factors directed by nonconserved hydrophilic residues. Genes Dev 7, 2456–2470
Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D’Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA (1994) Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8, 256–263
Steingrímsson E, Nii A, Fisher DE, Ferré-D’Amaré AR, McCormick RJ, Russell LB, Burley SK, Ward JM, Jenkins NA, Copeland NG (1996) The semidominant Mi b mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization. EMBO J 15, 6280–6289
Takebayashi K, Chida K, Tsukamoto I, Morii E, Munakata H, Arnheiter H, Kuroki T, Kitamura Y, Nomura S (1996) 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, 1203–1211
Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8, 251–255
Tassabehji M, Newton VE, Liu X-Z, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, Rice JC, Trembath R, Wieacker P, Whiteford M, Winter R, Read AP (1995) The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 4, 2131–2137
Author information
Authors and Affiliations
Additional information
By acceptance of this article, the publisher or recipient acknowledges the right of the US Government and its agents and contractors to retain a nonexclusive royalty-free license in and to any copyright covering the article.
Rights and permissions
About this article
Cite this article
Steingrímsson, E., Favor, J., Ferré-D’Amaré, A.F. et al. Mitf mi-enu122 is a missense mutation in the HLH dimerization domain. Mammalian Genome 9, 250–252 (1998). https://doi.org/10.1007/s003359900736
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/s003359900736