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    Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

    Access Status
    Open access via publisher
    Authors
    Bellone, Rebecca
    Holl, Heather
    Setaluri, Vijayasaradhi
    Devi, Sulochana
    Maddodi, Nityanand
    Archer, Sheila
    Sandmeyer, Lynne
    Ludwig, Arne
    Foerster, Daniel
    Pruvost, Melanie
    Reissmann, Monika
    Bortfeldt, Ralf
    Adelson, David
    Lim, Sim
    Nelson, Janelle
    Haase, Bianca
    Engensteiner, Martina
    Leeb, Tosso
    Forsyth, George
    Mienaltowski, Michael
    Mahadevan, Padmanabhan
    Hofreiter, Michael
    Paijmans, Johanna
    Gonzalez-Fortes, Gloria
    Grahn, Bruce
    Brooks, Samantha
    Date
    2013
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Bellone, R and Holl, H and Setaluri, V and Devi, S and Maddodi, N and Archer, S and Sandmeyer, L et al. 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.
    Source Title
    PLoS ONE
    DOI
    10.1371/journal.pone.0078280
    ISSN
    19326203
    URI
    http://hdl.handle.net/20.500.11937/26487
    Collection
    • Curtin Research Publications
    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 (X2=1022.00, p < 0.0005), and CSNB, testing 43 horses (X2=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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