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G3 (Bethesda, Md.)2017; 7(8); 2799-2806; doi: 10.1534/g3.117.043786

Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses.

Abstract: A unique eye color, called tiger-eye, segregates in the Puerto Rican Paso Fino (PRPF) horse breed and is characterized by a bright yellow, amber, or orange iris. Pedigree analysis identified a simple autosomal recessive mode of inheritance for this trait. A genome-wide association study (GWAS) with 24 individuals identified a locus on ECA 1 reaching genome-wide significance ( = 1.32 × 10). This ECA1 locus harbors the candidate gene, (), (), with known roles in pigmentation in humans, mice, and zebrafish. Humans with compound heterozygous mutations in have oculocutaneous albinism (OCA) type 6 (OCA6), which is characterized by dilute skin, hair, and eye pigmentation, as well as ocular anomalies. Twenty tiger-eye horses were homozygous for a nonsynonymous mutation in exon 2 (p.Phe91Tyr) of (called here Tiger-eye 1), which is predicted to be deleterious to protein function. Additionally, eight of the remaining 12 tiger-eye horses heterozygous for the p.Phe91Tyr variant were also heterozygous for a 628 bp deletion encompassing all of exon 7 of (c.875-340_1081+82del), which we will call here the Tiger-eye 2 allele. None of the 122 brown-eyed horses were homozygous for either tiger-eye-associated allele or were compound heterozygotes. Further, neither variant was detected in 196 horses from four related breeds not known to have the tiger-eye phenotype. Here, we propose that two mutations in affect iris pigmentation in tiger-eye PRPF horses. Further, unlike OCA6 in humans, the Tiger-eye 1 mutation in its homozygous state or as a compound heterozygote (Tiger-eye 1/Tiger-eye 2) does not appear to cause ocular anomalies or a change in coat color in the PRPF horse.
Copyright © 2017 Mack et al.
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Publication Date: 2017-08-07 PubMed ID: 28655738PubMed Central: PMC5555483DOI: 10.1534/g3.117.043786Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research investigates the unique “tiger-eye” pigmentation seen in the irises of Puerto Rican Paso Fino horses. The researchers identified two gene variants in the SLC24A5 gene that are connected with this uncommon trait, which doesn’t appear to lead to ocular or coat color changes in these horses.

Background and Methodology

  • The study focuses on a specific eye color, referred to as “tiger-eye,” which is found in the Puerto Rican Paso Fino (PRPF) horse breed. This eye color ranges from bright yellow to amber or orange.
  • The researchers undertook pedigree analysis for determining the mode of inheritance of this trait and discovered it follows a simple autosomal recessive pattern.
  • A genome-wide association study (GWAS) was performed with 24 individuals to further investigate. Through this analysis, a significant locus on ECA 1 was identified.
  • The identified ECA1 locus contains the potential candidate gene, SLC24A5. This gene has been previously associated with pigmentation roles in humans, mice, and zebrafish.

Findings and Conclusion

  • The researchers found that out of twenty tiger-eye horses, all were homozygous for a nonsynonymous mutation in exon 2 (p.Phe91Tyr) of SLC24A5, a variant referred to as Tiger-eye 1. This mutation is predicted to be detrimental to protein function.
  • Further study showed that eight out of an additional twelve heterozygous tiger-eye horses for the p.Phe91Tyr variant had a 628 bp deletion encompassing all of exon 7 of SLC24A5, referred to as Tiger-eye 2.
  • Neither of these variants was found in any of the 122 brown-eyed horses or 196 horses from related breeds without the tiger-eye phenotype, indicating that these mutations are specifically tied to the tiger-eye pigmentation.
  • Notably, the tiger-eye variants do not seem to cause ocular anomalies or alter the coat color, unlike similar mutations affecting pigmentation in humans.
  • As a result of their findings, these researchers proposed that the two mutations in SLC24A5 influence iris pigmentation in PRPF horses with tiger-eye.

Cite This Article

APA
Mack M, Kowalski E, Grahn R, Bras D, Penedo MCT, Bellone R. (2017). Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses. G3 (Bethesda), 7(8), 2799-2806. https://doi.org/10.1534/g3.117.043786

Publication

G3 (Bethesda, Md.)
ISSN: 2160-1836
NlmUniqueID: 101566598
Country: England
Language: English
Volume: 7
Issue: 8
Pages: 2799-2806

Researcher Affiliations

Mack, Maura
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616.
Kowalski, Elizabeth
  • Department of Biology, University of Tampa, Florida 33606.
Grahn, Robert
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616.
Bras, Dineli
  • Centro de Especialistas Veterinarios, San Juan, Puerto Rico 00926.
Penedo, Maria Cecilia T
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616.
Bellone, Rebecca
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616 rbellone@ucdavis.edu.
  • Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California 95616.

MeSH Terms

  • Animals
  • Antiporters / genetics
  • Exons / genetics
  • Eye Color / genetics
  • Female
  • Genome-Wide Association Study
  • Genotyping Techniques
  • Homozygote
  • Horses / genetics
  • Iris / physiology
  • Male
  • Pedigree
  • Phenotype
  • Sequence Deletion / genetics
  • Skin Pigmentation / genetics

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