ArticleGenetics2000
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.
Article in Genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
32 citing papers in PubMed.
- Dominant Negative Mitf Allele Impacts Melanophore and Xanthophore Development and Reveals Collaborative Interactions With Tfec in Zebrafish Chromatophore Lineages.Pigment cell & melanoma research · 2025Article
- Article
- The retinal pigment epithelium: Development, injury responses, and regenerative potential in mammalian and non-mammalian systems.Progress in retinal and eye research · 2021Review
- Stem Cell-Derived Models of Neural Crest Are Essential to Understand Melanoma Progression and Therapy Resistance.Frontiers in molecular neuroscience · 2019Review
- Loss of MITF expression during human embryonic stem cell differentiation disrupts retinal pigment epithelium development and optic vesicle cell proliferation.Human molecular genetics · 2014Article
- Mitf regulates osteoclastogenesis by modulating NFATc1 activity.Experimental cell research · 2014Article
- Evidence for an alternatively spliced MITF exon 2 variant.The Journal of investigative dermatology · 2014Article
- Differential evolution of duplicated medakafish mitf genes.International journal of biological sciences · 2013Article
- In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor.Genetics · 2012Article
- mitfa is required at multiple stages of melanocyte differentiation but not to establish the melanocyte stem cell.Developmental biology · 2011Article
- Allele-specific genetic interactions between Mitf and Kit affect melanocyte development.Pigment cell & melanoma research · 2010Article
- Changes in the expression of myosins during postnatal development of masseter muscle in the microphthalmic mouse.The open dentistry journal · 2010Article
- Article
- Frequent mutations in the MITF pathway in melanoma.Pigment cell & melanoma research · 2009Article
- Defective co-activator recruitment in osteoclasts from microphthalmia-oak ridge mutant mice.Journal of cellular physiology · 2009Article
- Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF.Development (Cambridge, England) · 2008Article
- An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate.Genetics · 2008Article
- Expression and transcriptional activity of alternative splice variants of Mitf exon 6.Molecular and cellular biochemistry · 2007Article
- Microphthalmia transcription factor isoforms in mast cells and the heart.Molecular and cellular biology · 2007Article
- Eos, MITF, and PU.1 recruit corepressors to osteoclast-specific genes in committed myeloid progenitors.Molecular and cellular biology · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Mouse microphthalmia transcription factor (Mitf) mutations affect the development of four cell types: melanocytes, mast cells, osteoclasts, and pigmented epithelial cells of the eye. The mutations are phenotypically diverse and can be arranged in an allelic series. In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation. Mitf mice thus represent an important model system for the study of human disease. Here we report the complete exon/intron structure of the mouse Mitf gene and show it to be similar to the human gene. We also found that the mouse gene is transcriptionally complex and is capable of generating at least 13 different Mitf isoforms. Some of these isoforms are missing important functional domains of the protein, suggesting that they might play an inhibitory role in Mitf function and signal transduction. In addition, we determined the molecular basis for six microphthalmia mutations. Two of the mutations are reported for the first time here (Mitf(mi-enu198) and Mitf(mi-x39)), while the others (Mitf(mi-ws), Mitf(mi-bws), Mitf(mi-ew), and Mitf(mi-di)) have been described but the molecular basis for the mutation not determined. When analyzed in terms of the genomic and transcriptional data presented here, it is apparent that these mutations result from RNA processing or transcriptional defects. Interestingly, three of the mutations (Mitf(mi-x39), Mitf(mi-bws), and Mitf(mi-ws)) produce proteins that are missing important functional domains of the protein identified in in vitro studies, further confirming a biological role for these domains in the whole animal.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.