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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| Format: | Journal Article |
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Public Library of Science
2013
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| Online Access: | http://hdl.handle.net/20.500.11937/26487 |
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| author | Bellone, Rebecca Holl, Heather Setaluri, Vijayasaradhi Devi, Sulochana Maddodi, Nityanand Archer, Sheila Sandmeyer, Lynne Ludwig, Arne Foerster, Daniel Pruvost, Melanie Reissmann, Monika Bortfeldt, Ralf Adelson, David Lim, Sim Nelson, Janelle Haase, Bianca Engensteiner, Martina Leeb, Tosso Forsyth, George Mienaltowski, Michael Mahadevan, Padmanabhan Hofreiter, Michael Paijmans, Johanna Gonzalez-Fortes, Gloria Grahn, Bruce Brooks, Samantha |
| author_facet | Bellone, Rebecca Holl, Heather Setaluri, Vijayasaradhi Devi, Sulochana Maddodi, Nityanand Archer, Sheila Sandmeyer, Lynne Ludwig, Arne Foerster, Daniel Pruvost, Melanie Reissmann, Monika Bortfeldt, Ralf Adelson, David Lim, Sim Nelson, Janelle Haase, Bianca Engensteiner, Martina Leeb, Tosso Forsyth, George Mienaltowski, Michael Mahadevan, Padmanabhan Hofreiter, Michael Paijmans, Johanna Gonzalez-Fortes, Gloria Grahn, Bruce Brooks, Samantha |
| author_sort | Bellone, Rebecca |
| building | Curtin Institutional Repository |
| collection | Online Access |
| 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 (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. |
| first_indexed | 2025-11-14T08:01:40Z |
| format | Journal Article |
| id | curtin-20.500.11937-26487 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T08:01:40Z |
| publishDate | 2013 |
| publisher | Public Library of Science |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-264872017-09-13T15:27:37Z Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse Bellone, Rebecca Holl, Heather Setaluri, Vijayasaradhi Devi, Sulochana Maddodi, Nityanand Archer, Sheila Sandmeyer, Lynne Ludwig, Arne Foerster, Daniel Pruvost, Melanie Reissmann, Monika Bortfeldt, Ralf Adelson, David Lim, Sim Nelson, Janelle Haase, Bianca Engensteiner, Martina Leeb, Tosso Forsyth, George Mienaltowski, Michael Mahadevan, Padmanabhan Hofreiter, Michael Paijmans, Johanna Gonzalez-Fortes, Gloria Grahn, Bruce Brooks, Samantha DNA sequencing Transmission electron microscopy Genotyping Introns Ancient DNA Horses DNA sequences Melanocytes 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. 2013 Journal Article http://hdl.handle.net/20.500.11937/26487 10.1371/journal.pone.0078280 Public Library of Science unknown |
| spellingShingle | DNA sequencing Transmission electron microscopy Genotyping Introns Ancient DNA Horses DNA sequences Melanocytes Bellone, Rebecca Holl, Heather Setaluri, Vijayasaradhi Devi, Sulochana Maddodi, Nityanand Archer, Sheila Sandmeyer, Lynne Ludwig, Arne Foerster, Daniel Pruvost, Melanie Reissmann, Monika Bortfeldt, Ralf Adelson, David Lim, Sim Nelson, Janelle Haase, Bianca Engensteiner, Martina Leeb, Tosso Forsyth, George Mienaltowski, Michael Mahadevan, Padmanabhan Hofreiter, Michael Paijmans, Johanna Gonzalez-Fortes, Gloria Grahn, Bruce Brooks, Samantha 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 | DNA sequencing Transmission electron microscopy Genotyping Introns Ancient DNA Horses DNA sequences Melanocytes |
| url | http://hdl.handle.net/20.500.11937/26487 |