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Home / Equine Research Bank / PLoS One / Evidence for a retroviral insertion in TRPM1 as the cause of...
PloS one2013; 8(10); e78280; doi: 10.1371/journal.pone.0078280

Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.

Abstract: Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2)=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ(2)=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.
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Publication Date: 2013-10-22 PubMed ID: 24167615PubMed Central: PMC3805535DOI: 10.1371/journal.pone.0078280Google 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.

The research article explores how a certain retroviral insertion in the TRPM1 gene is responsible for causing congenital stationary night blindness and leopard complex spotting in horses.

Key Concepts

  • Leopard complex spotting: This is a group of white spotting patterns in horses that is caused by an incomplete dominant gene (LP). Horses with two copies of this gene (LP/LP) also suffer from congenital stationary night blindness (CSNB).
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1): This is the gene that the researchers found to be most closely associated with both CSNB and LP.
  • RNA-Seq data: This form of data helped identify a 1378 base pair (bp) in the TRPM1 gene as the probable cause of both conditions.
  • Long Terminal Repeat (LTR) of an endogenous retrovirus: This is a type of repeating sequence in the DNA that is derived from a virus that had previously infected the organism. In this case, the sequential repeat was identified within the TRPM1 gene.
  • Premature poly-adenylation: This process can disrupt the transcription of a gene, leading to a dysfunctional gene product or no product at all. Within this study, it was shown that the LTR disrupted TRPM1 transcription via this method.

Findings of the Study

  • The research team found that there was a Long Terminal Repeat (LTR) of an endogenous retrovirus within the TRPM1 gene. This insertion was found to be completely associated with both LP and CSNB in tested horses.
  • Upon testing 511 horses with LP and 43 horses with CSNB, the researchers found a strong correlation between the presence of the LTR in the TRPM1 gene and these conditions.
  • The researchers demonstrated that the identified LTR was disrupting the transcription of the TRPM1 gene by causing premature poly-adenylation. This disruption in the gene’s function contributes to both conditions within horses.
  • The observation that this potentially harmful genetic change has remained in the gene pool of horses for at least 17,000 years was surprising. Under normal conditions, such deleterious changes would be selected against due to their negative impact on the species. However, in this case, the insertion has been preserved, illustrating the complex factors that shape a species’ genetic makeup over time.

Significance of the Study

  • This study is important as it provides the first description of an LTR insertion being tied to both a phenotype concerning pigmentation (leopard complex spotting) and a vision disorder (congenital stationary night blindness) within the equine species.

Cite This Article

APA
Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, Reissmann M, Bortfeldt R, Adelson DL, Lim SL, Nelson J, Haase B, Engensteiner M, Leeb T, Forsyth G, Mienaltowski MJ, Mahadevan P, Hofreiter M, Paijmans JL, Gonzalez-Fortes G, Grahn B, Brooks SA. (2013). Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One, 8(10), e78280. https://doi.org/10.1371/journal.pone.0078280

Publication

PloS one
ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 8
Issue: 10
Pages: e78280
PII: e78280

Researcher Affiliations

Bellone, Rebecca R
  • Department of Biology, University of Tampa, Tampa, Florida, United States of America.
Holl, Heather
    Setaluri, Vijayasaradhi
      Devi, Sulochana
        Maddodi, Nityanand
          Archer, Sheila
            Sandmeyer, Lynne
              Ludwig, Arne
                Foerster, Daniel
                  Pruvost, Melanie
                    Reissmann, Monika
                      Bortfeldt, Ralf
                        Adelson, David L
                          Lim, Sim Lin
                            Nelson, Janelle
                              Haase, Bianca
                                Engensteiner, Martina
                                  Leeb, Tosso
                                    Forsyth, George
                                      Mienaltowski, Michael J
                                        Mahadevan, Padmanabhan
                                          Hofreiter, Michael
                                            Paijmans, Johanna L A
                                              Gonzalez-Fortes, Gloria
                                                Grahn, Bruce
                                                  Brooks, Samantha A

                                                    MeSH Terms

                                                    • Animals
                                                    • Female
                                                    • Horse Diseases / genetics
                                                    • Horses
                                                    • Male
                                                    • Mutagenesis, Insertional
                                                    • Night Blindness / genetics
                                                    • Night Blindness / metabolism
                                                    • Night Blindness / veterinary
                                                    • Retroelements
                                                    • Retroviridae / genetics
                                                    • Skin Pigmentation / genetics
                                                    • TRPM Cation Channels / genetics
                                                    • TRPM Cation Channels / metabolism

                                                    Grant Funding

                                                    • P30 CA014520 / NCI NIH HHS
                                                    • R01 AR056087 / NIAMS NIH HHS
                                                    • AR AR056087 / NIAMS NIH HHS

                                                    Conflict of Interest Statement

                                                    The authors have declared that no competing interests exist.

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