ArticleGenetics2008
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).
Article in Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 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
78 citing papers in PubMed, 168 citations in OpenAlex.
- Single-Nucleus RNA Sequencing Highlights Endothelial and Müller Cell ER Stress During Retinal Neovascularization in Vldlr-/- Mouse.Investigative ophthalmology & visual science · 2026Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- A genome-wide investigation of insidious uveitis in Appaloosa horses.BMC genomics · 2025Article
- Exploring the Genetic Link Between Coat Colour and Morphological Traits: The Case of Peruano de Paso Horse.Animals : an open access journal from MDPI · 2025Article
- TRP channels in mammalian hearing loss.Frontiers in molecular neuroscience · 2025Review
- ROS and calcium signaling are critical determinant of skin pigmentation.Cell calcium · 2025Review
- Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds.Veterinary ophthalmology · 2024Article
- Retinal TRP channels: Cell-type-specific regulators of retinal homeostasis and multimodal integration.Progress in retinal and eye research · 2023Review
- Involvement of transient receptor potential channels in ocular diseases: a narrative review.Annals of translational medicine · 2022Article
- Runs of homozygosity in Sable Island feral horses reveal the genomic consequences of inbreeding and divergence from domestic breeds.BMC genomics · 2022Article
- Review
- The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.Channels (Austin, Tex.) · 2021Review
- High frequency of an otherwise rare phenotype in a small and isolated tiger population.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- AUY922 induces retinal toxicity through attenuating TRPM1.Journal of biomedical science · 2021Article
- "Adopt-a-Tissue" Initiative Advances Efforts to Identify Tissue-Specific Histone Marks in the Mare.Frontiers in genetics · 2021Article
- TRPM Channels in Human Diseases.Cells · 2020Review
- Review
- Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling.Nature communications · 2019Article
- Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.Genes · 2019Article
- TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.Scientific reports · 2019Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca(2+) concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.
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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.