ArticlePLoS genetics2010
Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
45 citing papers in PubMed, 127 citations in OpenAlex.
- Genomic diversity and structure in arabian horses revealed by whole-genome sequencing: establishment of an allele frequency database of common genetic variation.BMC genomics · 2026Article
- Uncovering Genetic Diversity and Adaptive Candidate Genes in the Mugalzhar Horse Breed Using Whole-Genome Sequencing Data.Animals : an open access journal from MDPI · 2025Article
- Predicted genetic burden and frequency of phenotype-associated variants in the horse.Scientific reports · 2024Article
- Differential Myosin 5a splice variants in innervation of pelvic organs.Frontiers in physiology · 2023Article
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- The Future of Biomarkers in Veterinary Medicine: Emerging Approaches and Associated Challenges.Animals : an open access journal from MDPI · 2022Review
- Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy.Journal of genetic mutation disorders · 2022Article
- Myosin 5a in the Urinary Bladder: Localization, Splice Variant Expression, and Functional Role in Neurotransmission.Frontiers in physiology · 2022Article
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- Whole genome detection of sequence and structural polymorphism in six diverse horses.PloS one · 2020Article
- Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.Animal genetics · 2019Review
- Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.Brain research · 2018Article
- Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy.Journal of veterinary internal medicine · 2018Article
- Improved reference genome for the domestic horse increases assembly contiguity and composition.Communications biology · 2018Article
- Analogs of human genetic skin disease in domesticated animals.International journal of women's dermatology · 2017Review
- Two Variants inG3 (Bethesda, Md.) · 2017Article
- Genetic differences between wild and hatchery-bred brown trout (Ecology and evolution · 2017Article
- RNA sequencing as a powerful tool in searching for genes influencing health and performance traits of horses.Journal of applied genetics · 2016Review
- Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped using a newly available single nucleotide polymorphism (SNP) chip containing 56,402 discriminatory elements. The whole genome scan identified an associated region containing these two functional candidate genes. Exon sequencing of the MYO5A gene from an affected foal revealed a single base deletion in exon 30 that changes the reading frame and introduces a premature stop codon. A PCR-based Restriction Fragment Length Polymorphism (PCR-RFLP) assay was designed and used to investigate the frequency of the mutant gene. All affected horses tested were homozygous for this mutation. Heterozygous carriers were detected in high frequency in families segregating for this trait, and the frequency of carriers in unrelated Egyptian Arabians was 10.3%. The mapping and discovery of the LFS mutation represents the first successful use of whole-genome SNP scanning in the horse for any trait. The RFLP assay can be used to assist breeders in avoiding carrier-to-carrier matings and thus in preventing the birth of affected foals.
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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.