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Home / Equine Research Bank / Mamm Genome / Endothelin receptor B polymorphism associated with lethal wh...
Mammalian genome : official journal of the International Mammalian Genome Society1998; 9(4); 306-309; doi: 10.1007/s003359900754

Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.

Abstract: Overo lethal white syndrome (OLWS) is an inherited syndrome of foals born to American Paint Horse parents of the overo coat-pattern lineage. Affected foals are totally or almost totally white and die within days from complications due to intestinal aganglionosis. Related conditions occur in humans and rodents in which mutations in the endothelin receptor B (EDNRB) gene are responsible. EDNRB is known to be involved in the developmental regulation of neural crest cells that become enteric ganglia and melanocytes. In this report we identify a polymorphism in the equine EDNRB gene closely associated with OLWS. This Ile to Lys substitution at codon 118 is located within the first transmembrane domain of this seven-transmembrane domain G-protein-coupled receptor protein. All 22 OLWS-affected foals examined were homozygous for the Lys118 EDNRB allele, while all available parents of affected foals were heterozygous. All but one of the parents also had an overo white body-spot phenotype. Solid-colored control horses of other breeds were homozygous for the Ile118 EDNRB allele. Molecular definition of the basis for OLWS in Paint Horses provides a genetic test for the presence of the Lys118 EDNRB allele and adds to our understanding of the basis for coat color patterns in the horse.
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Publication Date: 1998-04-08 PubMed ID: 9530628DOI: 10.1007/s003359900754Google Scholar: Lookup
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  • Journal Article
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  • Non-U.S. Gov't

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.

The research paper explores the relationship between a gene mutation in horses and the overo lethal white syndrome (OLWS), a hereditary condition that leads to the birth of almost completely white foals which usually die within Days due to complications linked to missing intestinal nerves.

Background of Overo Lethal White Syndrome (OLWS)

  • The OLWS is a genetic disorder plaguing the offspring of American Paint Horse parents that bear overo coat-pattern lineage.
  • The offspring impacted by this syndrome are almost entirely white and usually die within Days due to a health complication, intestinal aganglionosis, caused by missing nerves in the intestines.

Role of the Endothelin Receptor B (EDNRB) Gene

  • In humans and rodents, similar conditions to the OLWS have been identified as being caused by mutations in the EDNRB gene.
  • The EDNRB gene is understood to play a key role in guiding the development of neural crest cells into enteric ganglia and melanocytes.
  • This research has identified that a polymorphism (a genetic variation) in the equine EDNRB gene is closely associated with OLWS.

Details of the Identified Polymorphism

  • The identified genetic variation is a switch of an isoleucine (Ile) to a lysine (Lys) residue at the 118th codon. This modification occurs within the first transmembrane domain of the seven-transmembrane domain G-protein-coupled receptor protein.
  • The research found all the 22 OLWS-impacted foals studied were homozygous (having two identical alleles for the same trait) for the Lys118 EDNRB allele, while all their parents were heterozygous (two different alleles for the same trait).
  • All but one of the parent horses exhibited an overo white body-spot phenotype.
  • In comparison, solid-colored horses of other breeds that were used as controls were found to be homozygous for the Ile118 EDNRB allele, thus not showing any sign of the OLWS disease.

Implications of the Findings

  • The findings offer a molecular definition for the genesis of OLWS in Paint Horses.
  • It also allows the development of a genetic test to detect the presence of the Lys118 EDNRB allele, which would be useful for mitigating potential OLWS cases before they occur.
  • Besides, this research enhances our understanding regarding the factors that determine coat color patterns in horses.

Cite This Article

APA
Santschi EM, Purdy AK, Valberg SJ, Vrotsos PD, Kaese H, Mickelson JR. (1998). Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome, 9(4), 306-309. https://doi.org/10.1007/s003359900754

Publication

Mammalian genome : official journal of the International Mammalian Genome Society
ISSN: 0938-8990
NlmUniqueID: 9100916
Country: United States
Language: English
Volume: 9
Issue: 4
Pages: 306-309

Researcher Affiliations

Santschi, E M
  • Department of Clinical and Population Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul 55108, USA.
Purdy, A K
    Valberg, S J
      Vrotsos, P D
        Kaese, H
          Mickelson, J R

            MeSH Terms

            • Amino Acid Sequence
            • Animals
            • Base Sequence
            • DNA, Complementary
            • Genes, Lethal
            • Genotype
            • Horse Diseases / genetics
            • Horses
            • Molecular Sequence Data
            • Polymorphism, Genetic
            • Receptor, Endothelin B
            • Receptors, Endothelin / genetics
            • Sequence Homology, Amino Acid

            References

            This article includes 27 references
            1. Hum Mol Genet. 1996 Mar;5(3):303-7
              pubmed: 8852653
            2. Am J Hum Genet. 1990 Mar;46(3):568-80
              pubmed: 2309705
            3. Trends Genet. 1997 Jul;13(7):276-80
              pubmed: 9242050
            4. Mamm Genome. 1996 Dec;7(12):895-9
              pubmed: 8995760
            5. Cell. 1994 Dec 30;79(7):1257-66
              pubmed: 8001158
            6. N Engl J Med. 1967 Jan 19;276(3):138-43
              pubmed: 4224912
            7. Genome Res. 1995 Aug;5(1):29-41
              pubmed: 8717053
            8. Hum Mol Genet. 1995 Dec;4(12):2407-9
              pubmed: 8634719
            9. Nat Genet. 1996 Apr;12(4):445-7
              pubmed: 8630503
            10. J Am Vet Med Assoc. 1982 Feb 1;180(3):289-92
              pubmed: 7056678
            11. Hum Mol Genet. 1996 Mar;5(3):355-7
              pubmed: 8852660
            12. Annu Rev Genet. 1994;28:189-217
              pubmed: 7893123
            13. Vet Pathol. 1983 Jan;20(1):65-70
              pubmed: 6849219
            14. Hum Mol Genet. 1996 Mar;5(3):347-9
              pubmed: 8852658
            15. Lab Invest. 1994 Jul;71(1):82-93
              pubmed: 8041122
            16. Nat Genet. 1996 Apr;12(4):442-4
              pubmed: 8630502
            17. J Biol Chem. 1993 Feb 25;268(6):3873-9
              pubmed: 8440682
            18. J Hered. 1994 May-Jun;85(3):222-4
              pubmed: 8014463
            19. Cell. 1994 Dec 30;79(7):1267-76
              pubmed: 8001159
            20. Cell. 1994 Dec 30;79(7):1277-85
              pubmed: 8001160
            21. Hum Mol Genet. 1996 Mar;5(3):351-4
              pubmed: 8852659
            22. Int J Epidemiol. 1984 Dec;13(4):479-85
              pubmed: 6240474
            23. Nat Genet. 1993 Aug;4(4):325-6
              pubmed: 8401573
            24. Hum Mol Genet. 1995 Nov;4(11):2089-96
              pubmed: 8589685
            25. Am J Med Genet. 1990 Jul;36(3):336-40
              pubmed: 2363434
            26. Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):867-72
              pubmed: 8570650
            27. Anal Biochem. 1987 Apr;162(1):156-9
              pubmed: 2440339

            Citations

            This article has been cited 44 times.
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