The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins
| Autor: | Martin Hrabé de Angelis, Angelika Neuhäuser-Klaus, Karen Pálsdóttir, John Favor, Eiríkur Steingrímsson, Adalheidur Gı́gja Hansdottir, Helmut Fuchs |
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| Rok vydání: | 2004 |
| Předmět: |
Genotype
E-box Biology Microphthalmia Mice Genetics medicine Animals STXBP1 Amino Acid Sequence Transcription factor Gene Genes Dominant Microphthalmia-Associated Transcription Factor Base Sequence integumentary system medicine.disease Microphthalmia-associated transcription factor Phenotype DNA-Binding Proteins body regions Mutation Microsatellite Repeats Transcription Factors IRF4 |
| Zdroj: | Genomics. 83:932-935 |
| ISSN: | 0888-7543 |
| DOI: | 10.1016/j.ygeno.2003.10.013 |
| Popis: | Mutations in the microphthalmia-associated transcription factor (Mitf) gene affect the development of different cell types, including melanocytes, osteoclasts, and retinal pigmented epithelial cells of the eye. Many different mutations at the locus are known and since they affect the phenotype to different extents they form an allelic series. The Mitf protein is a member of the Mitf-Tfe subfamily of basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factors and binds the 6-bp canonical CAC/TGTG sequence (E box) as either a homodimer or a heterodimer with related proteins. The many Mitf mutations have provided important insights into the in vivo behavior of a bHLH-Zip protein. Here we describe the phenotype of two new semidominant Mitf mutations recovered in recent mutagenic screens, Mitf(mi-enu5) and Mitf(mi-bcc2); determine the molecular lesions involved; and show that the mutant proteins act in a dominant negative fashion in vitro. The novel mutations are phenotypically distinct from previously known Mitf mutations. |
| Databáze: | OpenAIRE |
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