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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

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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. / Bellone, Rebecca R.; Holl, Heather; Setaluri, Vijayasaradhi et al.
In: PLoS ONE, Vol. 8, No. 10, 22.10.2013, p. e78280.

Research output: Contribution to journal › Article › peer-review

HarvardHarvard

Bellone, RR, Holl, H, Setaluri, V, Devi, S, Maddodi, N, Archer, S, Sandmeyer, L, Ludwig, A, Foerster, D, Pruvost, M, Reissmann, M, Bortfeldt, R, Adelson, DL, Lim, SL, Nelson, J, Haase, B, Engensteiner, M, Leeb, T, Forsyth, G, Mienaltowski, MJ, Mahadevan, P, Hofreiter, M, Paijmans, JLA, Gonzalez-Fortes, G, Grahn, B & Brooks, SA 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, vol. 8, no. 10, pp. e78280. https://doi.org/10.1371/journal.pone.0078280

APA

Bellone, R. R., Holl, H., Setaluri, V., Devi, S., Maddodi, N., Archer, S., Sandmeyer, L., Ludwig, A., Foerster, D., Pruvost, M., Reissmann, M., Bortfeldt, R., Adelson, D. L., Lim, S. L., Nelson, J., Haase, B., Engensteiner, M., Leeb, T., Forsyth, G., ... Brooks, S. A. (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. https://doi.org/10.1371/journal.pone.0078280

CBE

Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, 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. https://doi.org/10.1371/journal.pone.0078280

MLA

Bellone, Rebecca R. et al. "Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse". PLoS ONE. 2013, 8(10). e78280. https://doi.org/10.1371/journal.pone.0078280

VancouverVancouver

Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S et al. Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse. PLoS ONE. 2013 Oct 22;8(10):e78280. doi: 10.1371/journal.pone.0078280

Author

Bellone, Rebecca R. ; Holl, Heather ; Setaluri, Vijayasaradhi et al. / Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse. In: PLoS ONE. 2013 ; Vol. 8, No. 10. pp. e78280.

RIS

TY - JOUR

T1 - Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

AU - Bellone, Rebecca R.

AU - Holl, Heather

AU - Setaluri, Vijayasaradhi

AU - Devi, Sulochana

AU - Maddodi, Nityanand

AU - Archer, Sheila

AU - Sandmeyer, Lynne

AU - Ludwig, Arne

AU - Foerster, Daniel

AU - Pruvost, Melanie

AU - Reissmann, Monika

AU - Bortfeldt, Ralf

AU - Adelson, David L.

AU - Lim, Sim Lin

AU - Nelson, Janelle

AU - Haase, Bianca

AU - Engensteiner, Martina

AU - Leeb, Tosso

AU - Forsyth, George

AU - Mienaltowski, Michael J.

AU - Mahadevan, Padmanabhan

AU - Hofreiter, Michael

AU - Paijmans, Johanna L. A.

AU - Gonzalez-Fortes, Gloria

AU - Grahn, Bruce

AU - Brooks, Samantha A.

PY - 2013/10/22

Y1 - 2013/10/22

N2 - 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.

AB - 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.

U2 - 10.1371/journal.pone.0078280

DO - 10.1371/journal.pone.0078280

M3 - Erthygl

VL - 8

SP - e78280

JO - PLoS ONE

JF - PLoS ONE

SN - 1932-6203

IS - 10

ER -