| Title |
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses
|
|---|---|
| Published in |
Mammalian Genome, November 2005
|
| DOI | 10.1007/s00335-005-2472-y |
| Pubmed ID | |
| Authors |
Samantha A. Brooks, Ernest Bailey |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 73 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 3% |
| Brazil | 2 | 3% |
| Argentina | 1 | 1% |
| Iceland | 1 | 1% |
| Unknown | 67 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 15 | 21% |
| Student > Master | 12 | 16% |
| Student > Ph. D. Student | 9 | 12% |
| Student > Bachelor | 7 | 10% |
| Professor > Associate Professor | 7 | 10% |
| Other | 15 | 21% |
| Unknown | 8 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 39 | 53% |
| Biochemistry, Genetics and Molecular Biology | 9 | 12% |
| Veterinary Science and Veterinary Medicine | 4 | 5% |
| Immunology and Microbiology | 2 | 3% |
| Medicine and Dentistry | 2 | 3% |
| Other | 7 | 10% |
| Unknown | 10 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 October 2023.
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#7,754,533
of 23,572,509 outputs
Outputs from Mammalian Genome
#323
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Outputs of similar age
#21,232
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Outputs of similar age from Mammalian Genome
#3
of 9 outputs
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