ArticlePloS one2013
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
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Who cites it
49 citing papers in PubMed, 183 citations in OpenAlex.
- A genome-wide investigation of insidious uveitis in Appaloosa horses.BMC genomics · 2025Article
- Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.iScience · 2025Article
- High-quality, haplotype-resolved reference genomes of the Dutch warmblood horse and Friesian horse using trio binning.BMC genomics · 2025Article
- Three NovelAnimals : an open access journal from MDPI · 2025Article
- Rewilded horses in European nature conservation - a genetics, ethics, and welfare perspective.Biological reviews of the Cambridge Philosophical Society · 2025Review
- Additional evidence supports GRM6 p.Thr178Met as a cause of congenital stationary night blindness in three horse breeds.Veterinary ophthalmology · 2024Article
- Genomic insights into local adaptation and phenotypic diversity of Wenchang chickens.Poultry science · 2024Article
- Spotting the Pattern: A Review on White Coat Color in the Domestic Horse.Animals : an open access journal from MDPI · 2024Review
- A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.Cells · 2024Article
- The genomic landscape of mammal domestication might be orchestrated by selected transcription factors regulating brain and craniofacial development.Development genes and evolution · 2023Article
- Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.Human genetics · 2023Article
- Taming transposable elements in livestock and poultry: a review of their roles and applications.Genetics, selection, evolution : GSE · 2023Review
- Article
- Elephants as an animal model for self-domestication.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Estimating Temporally Variable Selection Intensity from Ancient DNA Data.Molecular biology and evolution · 2023Article
- Characterization of the Sarcidano Horse Coat Color Genes.Animals : an open access journal from MDPI · 2022Article
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- Science-in-brief: Genomic and transcriptomic approaches to the investigation of equine diseases.Equine veterinary journal · 2022Article
- Article
- AUY922 induces retinal toxicity through attenuating TRPM1.Journal of biomedical science · 2021Article
Corrections and comments
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Authors and funding
26 authors at 11 institutions in 7 countries.
Funding
Abstract
Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2)=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ(2)=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.
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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.