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DOI

  • Rebecca R. Bellone
    University of Tampa
  • Heather Holl
    Cornell University
  • Vijayasaradhi Setaluri
    University of Wisconsin
  • Sulochana Devi
    University of Wisconsin
  • Nityanand Maddodi
    University of Wisconsin
  • Sheila Archer
  • Lynne Sandmeyer
    University of Saskatchewan
  • Arne Ludwig
    Leibniz Institute for Zoo and Wildlife Research
  • Daniel Foerster
    Leibniz Institute for Zoo and Wildlife Research
  • Melanie Pruvost
    Leibniz Institute for Zoo and Wildlife Research
  • Monika Reissmann
    Humboldt-University, Berlin
  • Ralf Bortfeldt
    Humboldt-University, Berlin
  • David L. Adelson
    University of Adelaide
  • Sim Lin Lim
    University of Adelaide
  • Janelle Nelson
    University of Tampa
  • Bianca Haase
    University of Sydney
  • Martina Engensteiner
    University of Bern
  • Tosso Leeb
    University of Bern
  • George Forsyth
    University of Saskatchewan
  • Michael J. Mienaltowski
    University of South Florida
  • Padmanabhan Mahadevan
    University of Tampa
  • Michael Hofreiter
    University of York
  • Johanna L. A. Paijmans
    University of York
  • Gloria Gonzalez-Fortes
    University of York
  • Bruce Grahn
    University of Saskatchewan
  • Samantha A. Brooks
    Cornell University
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 (χ2=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=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.
Original languageUnknown
Pages (from-to)e78280
JournalPLoS ONE
Volume8
Issue number10
DOIs
Publication statusPublished - 22 Oct 2013
Externally publishedYes
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