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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

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...

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Autores principales: Bellone, Rebecca R., Holl, Heather, Setaluri, Vijayasaradhi, Devi, Sulochana, Maddodi, Nityanand, Archer, Sheila, Sandmeyer, Lynne, Ludwig, Arne, Foerster, Daniel, Pruvost, Melanie, Reissmann, Monika, Bortfeldt, Ralf, Adelson, David L., Lim, Sim Lin, Nelson, Janelle, Haase, Bianca, Engensteiner, Martina, Leeb, Tosso, Forsyth, George, Mienaltowski, Michael J., Mahadevan, Padmanabhan, Hofreiter, Michael, Paijmans, Johanna L. A., Gonzalez-Fortes, Gloria, Grahn, Bruce, Brooks, Samantha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805535/
https://www.ncbi.nlm.nih.gov/pubmed/24167615
http://dx.doi.org/10.1371/journal.pone.0078280
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author Bellone, Rebecca R.
Holl, Heather
Setaluri, Vijayasaradhi
Devi, Sulochana
Maddodi, Nityanand
Archer, Sheila
Sandmeyer, Lynne
Ludwig, Arne
Foerster, Daniel
Pruvost, Melanie
Reissmann, Monika
Bortfeldt, Ralf
Adelson, David L.
Lim, Sim Lin
Nelson, Janelle
Haase, Bianca
Engensteiner, Martina
Leeb, Tosso
Forsyth, George
Mienaltowski, Michael J.
Mahadevan, Padmanabhan
Hofreiter, Michael
Paijmans, Johanna L. A.
Gonzalez-Fortes, Gloria
Grahn, Bruce
Brooks, Samantha A.
author_facet Bellone, Rebecca R.
Holl, Heather
Setaluri, Vijayasaradhi
Devi, Sulochana
Maddodi, Nityanand
Archer, Sheila
Sandmeyer, Lynne
Ludwig, Arne
Foerster, Daniel
Pruvost, Melanie
Reissmann, Monika
Bortfeldt, Ralf
Adelson, David L.
Lim, Sim Lin
Nelson, Janelle
Haase, Bianca
Engensteiner, Martina
Leeb, Tosso
Forsyth, George
Mienaltowski, Michael J.
Mahadevan, Padmanabhan
Hofreiter, Michael
Paijmans, Johanna L. A.
Gonzalez-Fortes, Gloria
Grahn, Bruce
Brooks, Samantha A.
author_sort Bellone, Rebecca R.
collection PubMed
description 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 (χ(2)=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ(2)=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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spelling pubmed-38055352013-10-28 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 Devi, Sulochana Maddodi, Nityanand Archer, Sheila Sandmeyer, Lynne Ludwig, Arne Foerster, Daniel Pruvost, Melanie Reissmann, Monika Bortfeldt, Ralf Adelson, David L. Lim, Sim Lin Nelson, Janelle Haase, Bianca Engensteiner, Martina Leeb, Tosso Forsyth, George Mienaltowski, Michael J. Mahadevan, Padmanabhan Hofreiter, Michael Paijmans, Johanna L. A. Gonzalez-Fortes, Gloria Grahn, Bruce Brooks, Samantha A. PLoS One Research Article 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 (χ(2)=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ(2)=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. Public Library of Science 2013-10-22 /pmc/articles/PMC3805535/ /pubmed/24167615 http://dx.doi.org/10.1371/journal.pone.0078280 Text en © 2013 Bellone et al http://creativecommons.org/licenses/by/4.0/ 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 properly credited.
spellingShingle Research Article
Bellone, Rebecca R.
Holl, Heather
Setaluri, Vijayasaradhi
Devi, Sulochana
Maddodi, Nityanand
Archer, Sheila
Sandmeyer, Lynne
Ludwig, Arne
Foerster, Daniel
Pruvost, Melanie
Reissmann, Monika
Bortfeldt, Ralf
Adelson, David L.
Lim, Sim Lin
Nelson, Janelle
Haase, Bianca
Engensteiner, Martina
Leeb, Tosso
Forsyth, George
Mienaltowski, Michael J.
Mahadevan, Padmanabhan
Hofreiter, Michael
Paijmans, Johanna L. A.
Gonzalez-Fortes, Gloria
Grahn, Bruce
Brooks, Samantha A.
Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title_full Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title_fullStr Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title_full_unstemmed Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title_short Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
title_sort evidence for a retroviral insertion in trpm1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805535/
https://www.ncbi.nlm.nih.gov/pubmed/24167615
http://dx.doi.org/10.1371/journal.pone.0078280
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