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dc.contributor.authorBellone, Rebecca
dc.contributor.authorHoll, Heather
dc.contributor.authorSetaluri, Vijayasaradhi
dc.contributor.authorDevi, Sulochana
dc.contributor.authorMaddodi, Nityanand
dc.contributor.authorArcher, Sheila
dc.contributor.authorSandmeyer, Lynne
dc.contributor.authorLudwig, Arne
dc.contributor.authorFoerster, Daniel
dc.contributor.authorPruvost, Melanie
dc.contributor.authorReissmann, Monika
dc.contributor.authorBortfeldt, Ralf
dc.contributor.authorAdelson, David
dc.contributor.authorLim, Sim
dc.contributor.authorNelson, Janelle
dc.contributor.authorHaase, Bianca
dc.contributor.authorEngensteiner, Martina
dc.contributor.authorLeeb, Tosso
dc.contributor.authorForsyth, George
dc.contributor.authorMienaltowski, Michael
dc.contributor.authorMahadevan, Padmanabhan
dc.contributor.authorHofreiter, Michael
dc.contributor.authorPaijmans, Johanna
dc.contributor.authorGonzalez-Fortes, Gloria
dc.contributor.authorGrahn, Bruce
dc.contributor.authorBrooks, Samantha
dc.identifier.citationBellone, 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.

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.

dc.publisherPublic Library of Science
dc.subjectDNA sequencing
dc.subjectTransmission electron microscopy
dc.subjectAncient DNA
dc.subjectDNA sequences
dc.titleEvidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
dc.typeJournal Article
dcterms.source.titlePLoS ONE
curtin.accessStatusOpen access via publisher

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