ArticleDevelopment (Cambridge, England)2008
Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF.
Article in Development (Cambridge, England), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers.
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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
90 citing papers in PubMed, 149 citations in OpenAlex.
- MITF Is an Essential and Functionally Multifaceted Transcription Factor in Cutaneous Melanoma.Cancers · 2026Review
- Loss of Hippo signaling causes transdifferentiation of neural retina between the optic fissure edges causing coloboma.bioRxiv : the preprint server for biology · 2026Article
- Functional polymorphisms in pigmentation-related genesBiochemistry and biophysics reports · 2026Article
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Transcription factor MITF regulates masseter muscle growth and development.Physiological reports · 2025Article
- Alternative promoter usage during organ development.PLoS genetics · 2025Article
- Piwi regulates the usage of alternative transcription start sites in the Drosophila ovary.Nucleic acids research · 2025Article
- Novel mechanisms of MITF regulation identified in a mouse suppressor screen.EMBO reports · 2024Article
- Novel mechanisms of MITF regulation identified in a mouse suppressor screen.EMBO reports · 2024Article
- Review
- Microphthalmia and disrupted retinal development due to abioRxiv : the preprint server for biology · 2024Article
- Evolutionary conservation of VSX2 super-enhancer modules in retinal development.Development (Cambridge, England) · 2024Article
- Alternative TSS use is widespread in Cryptococcus fungi in response to environmental cues and regulated genome-wide by the transcription factor Tur1.PLoS biology · 2024Article
- Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in thebioRxiv : the preprint server for biology · 2024Article
- Microphthalmia and Disrupted Retinal Development Due to aEye and brain · 2024Article
- A framework to identify functional interactors that contribute to disrupted early retinal development in Vsx2 ocular retardation J mice.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- The C-terminal transactivation domain of MITF interacts promiscuously with co-activator CBP/p300.Scientific reports · 2023Article
- Novel mechanisms of MITF regulation and melanoma predisposition identified in a mouse suppressor screen.bioRxiv : the preprint server for biology · 2023Article
- Retinal Pigment Epithelium Cell Development: Extrapolating Basic Biology to Stem Cell Research.Biomedicines · 2023Review
- Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.Investigative ophthalmology & visual science · 2022Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
During vertebrate eye development, the transcription factor MITF plays central roles in neuroepithelial domain specification and differentiation of the retinal pigment epithelium. MITF is not a single protein but represents a family of isoforms generated from a common gene by alternative promoter/exon use. To address the question of the role and regulation of these isoforms, we first determined their expression patterns in developing mouse eyes and analyzed the role of some of them in genetic models. We found that two isoforms, A- and J-Mitf, are present throughout development in both retina and pigment epithelium, whereas H-Mitf is detected preferentially and D-Mitf exclusively in the pigment epithelium. We further found that a genomic deletion encompassing the promoter/exon regions of H-, D- and B-Mitf leads to novel mRNA isoforms and proteins translated from internal start sites. These novel proteins lack the normal, isoform-specific N-terminal sequences and are unable to support the development of the pigment epithelium, but are capable of inducing pigmentation in the ciliary margin and the iris. Moreover, in mutants of the retinal Mitf regulator Chx10 (Vsx2), reduced cell proliferation and abnormal pigmentation of the retina are associated with a preferential upregulation of H- and D-Mitf. This retinal phenotype is corrected when H- and D-Mitf are missing in double Mitf/Chx10 mutants. The results suggest that Mitf regulation in the developing eye is isoform-selective, both temporally and spatially, and that some isoforms, including H- and D-Mitf, are more crucial than others in effecting normal retina and pigment epithelium development.
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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.