ArticleMammalian genome : official journal of the International Mammalian Genome Society2005
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 120 citations in OpenAlex.
- Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.iScience · 2025Article
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.BMC genomics · 2024Article
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.Animals : an open access journal from MDPI · 2024Review
- Spotting the Pattern: A Review on White Coat Color in the Domestic Horse.Animals : an open access journal from MDPI · 2024Review
- Article
- Article
- AAnimals : an open access journal from MDPI · 2022Article
- Article
- Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).Ecology and evolution · 2021Article
- Selection in the Finnhorse, a native all-around horse breed.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2021Article
- Whole genome variants across 57 pig breeds enable comprehensive identification of genetic signatures that underlie breed features.Journal of animal science and biotechnology · 2020Article
- Article
- Coat Color Roan Shows Association withGenes · 2020Article
- A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.The Journal of heredity · 2020Article
- Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle.Genetics, selection, evolution : GSE · 2019Article
- Article
- Novel insights into Sabino1 and splashed white coat color patterns in horses.Animal genetics · 2018Article
- Piebald Camels.Pastoralism : research, policy and practice · 2017Article
- Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse.Journal of applied genetics · 2016Article
- Investigation of inherited diseases in cats: genetic and genomic strategies over three decades.Journal of feline medicine and surgery · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sabino (SB) is a white spotting pattern in the horse characterized by white patches on the face, lower legs, or belly, and interspersed white hairs on the midsection. Based on comparable phenotypes in humans and pigs, the KIT gene was investigated as the origin of the Sabino phenotype. In this article we report the genetic basis of one type of Sabino spotting pattern in horses that we call Sabino 1, with the alleles represented by the symbols SB1 and sb1. Transcripts of KIT were characterized by reverse transcriptase polymerase chain reaction (RT-PCR) and sequencing cDNA from horses with the genotypes SB1/SB1, SB1/sb1, and sb1/sb1. Horses with the Sabino 1 trait produced a splice variant of KIT that did not possess exon 17. Genomic DNA sequencing of KIT revealed a single nucleotide polymorphism (SNP) caused by a base substitution for T with A in intron 16, 1037 bases following exon 16. The SNP associated with SB1 was designated KI16+1037A. This substitution eliminated a MnlI restriction site and allowed the use of PCR-RFLP to characterize individuals for this base change. Complete linkage was observed between this SNP and Sabino 1 in the Tennessee Walking Horse families (LOD = 9.02 for Theta = 0). Individual horses from other breeds were also tested. All five horses homozygous for this SNP were white, and all 68 horses with one copy of this SNP either exhibited the Sabino 1 phenotype or were multipatterned. Some multipatterned individuals appeared white due to the additive effect of white spotting patterns. However, 13 horses with other Sabino-type patterns did not have this SNP. Based on these results we propose the following: (1) this SNP, found within intron 16, is responsible for skipping of exon 17 and the SB1 phenotype, (2) the White and Sabino phenotypes are heterogeneous and this mechanism is not the only way to produce the pattern described as "Sabino" or "White," and (3) homozygosity for SB1 results in a complete or nearly completely white phenotype.
Indexed as
Identifiers
What OpenQuestion holds
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.