Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
MetadataShow full item record
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.
Showing items related by title, author, creator and subject.
Orlando, L.; Ginolhac, A.; Zhang, G.; Froese, D.; Albrechtsen, A.; Stiller, M.; Schubert, M.; Cappellini, E.; Petersen, B.; Moltke, I.; Johnson, P.; Fumagalli, M.; Vilstrup, J.; Raghavan, M.; Korneliussen, T.; Malaspinas, A.; Vogt, J.; Szklarczyk, D.; Kelstrup, C.; Vinther, J.; Dolocan, A.; Stenderup, J.; Velazquez, A.; Cahill, J.; Rasmussen, M.; Wang, X.; Min, J.; Zazula, G.; Seguin-Orlando, A.; Mortensen, C.; Magnussen, K.; Thompson, J.; Weinstock, J.; Gregersen, K.; Roed, K.; Eisenmann, V.; Rubin, C.; Miller, D.; Antczak, D.; Bertelsen, M.; Brunak, S.; Al-Rasheid, K.; Ryder, O.; Andersson, L.; Mundy, J.; Krogh, A.; Gilbert, Thomas; Kjær, K.; Sicheritz-Ponten, T.; Jensen, L.; Olsen, J.; Hofreiter, M.; Nielsen, R.; Shapiro, B.; Wang, Jun; Willerslev, E. (2013)The rich fossil record of equids has made them a model for evolutionary processes1. Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560–780 thousand ...
Prow, N.; May, F.; Westlake, D.; Hurrelbrink, R.; Biron, R.; Leung, J.; McMinn, P.; Clark, D.; Mackenzie, John; Lobigs, M; Khromykh, A.; Hall, R. (2011)Murray Valley encephalitis virus (MVEV) is a mosquito-borne flavivirus endemic to Australia and Papua New Guinea. Most strains of MVEV cause potentially fatal cases of encephalitis in humans and horses, and have been shown ...
Multiple introductions of methicillin-resistant Staphylococcus aureus ST612 into Western Australia associated with both human and equine reservoirs.Murphy, Riley; Ramsay, Josh ; Lee, Y.; Pang, S.; O'Dea, M.; Pearson, J.; Axon, J.; Raby, E.; Abdulgader, S.; Whitelaw, A.; Coombs, G. (2019)Staphylococcus aureus is a serious human and animal pathogen. Multilocus sequence type 612 (ST612) is the dominant methicillin-resistant S. aureus (MRSA) clone in certain South African hospitals and is sporadically isolated ...