Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/81524
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Type: Journal article
Title: Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse
Author: Bellone, R.
Holl, H.
Sealuri, V.
Devi, S.
Maddodi, N.
Archer, S.
Sandmeyer, L.
Ludwig, A.
Foerster, D.
Pruvost, M.
Reissmann, M.
Bortfeldt, R.
Adelson, D.
Lim, S.
Nelson, J.
Haase, B.
Engensteiner, M.
Leeb, T.
Forsyth, G.
Mienaltowski, M.
et al.
Citation: PLoS One, 2013; 8(10):1-14
Publisher: Public Library of Science
Issue Date: 2013
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
Rebecca R. Bellone … David L. Adelson, Sim Lin Lim … et al.
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 (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.
Keywords: Animals; Horses; Retroviridae; Night Blindness; Horse Diseases; Retroelements; Skin Pigmentation; Mutagenesis, Insertional; Female; Male; TRPM Cation Channels
Rights: © 2013 Bellone et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 0020132525
DOI: 10.1371/journal.pone.0078280
Appears in Collections:Molecular and Biomedical Science publications

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