A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
Saltatorial locomotion is a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and some species of rodents. The molecular mechanisms that control and fine-tune the formation of this type of gait are unknown. Here, we take advantage of one strain of domesticated rabbits,...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2021-03-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009429&type=printable |
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| author | Miguel Carneiro Jennifer Vieillard Pedro Andrade Samuel Boucher Sandra Afonso José A Blanco-Aguiar Nuno Santos João Branco Pedro J Esteves Nuno Ferrand Klas Kullander Leif Andersson |
| author_facet | Miguel Carneiro Jennifer Vieillard Pedro Andrade Samuel Boucher Sandra Afonso José A Blanco-Aguiar Nuno Santos João Branco Pedro J Esteves Nuno Ferrand Klas Kullander Leif Andersson |
| author_sort | Miguel Carneiro |
| collection | DOAJ |
| description | Saltatorial locomotion is a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and some species of rodents. The molecular mechanisms that control and fine-tune the formation of this type of gait are unknown. Here, we take advantage of one strain of domesticated rabbits, the sauteur d'Alfort, that exhibits an abnormal locomotion behavior defined by the loss of the typical jumping that characterizes wild-type rabbits. Strikingly, individuals from this strain frequently adopt a bipedal gait using their front legs. Using a combination of experimental crosses and whole genome sequencing, we show that a single locus containing the RAR related orphan receptor B gene (RORB) explains the atypical gait of these rabbits. We found that a splice-site mutation in an evolutionary conserved site of RORB results in several aberrant transcript isoforms incorporating intronic sequence. This mutation leads to a drastic reduction of RORB-positive neurons in the spinal cord, as well as defects in differentiation of populations of spinal cord interneurons. Our results show that RORB function is required for the performance of saltatorial locomotion in rabbits. |
| first_indexed | 2024-12-21T05:55:18Z |
| format | Article |
| id | doaj.art-54e19d8faffd40d995ebeb0adba5c28b |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2025-03-14T07:45:46Z |
| publishDate | 2021-03-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-54e19d8faffd40d995ebeb0adba5c28b2025-03-03T05:32:53ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042021-03-01173e100942910.1371/journal.pgen.1009429A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.Miguel CarneiroJennifer VieillardPedro AndradeSamuel BoucherSandra AfonsoJosé A Blanco-AguiarNuno SantosJoão BrancoPedro J EstevesNuno FerrandKlas KullanderLeif AnderssonSaltatorial locomotion is a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and some species of rodents. The molecular mechanisms that control and fine-tune the formation of this type of gait are unknown. Here, we take advantage of one strain of domesticated rabbits, the sauteur d'Alfort, that exhibits an abnormal locomotion behavior defined by the loss of the typical jumping that characterizes wild-type rabbits. Strikingly, individuals from this strain frequently adopt a bipedal gait using their front legs. Using a combination of experimental crosses and whole genome sequencing, we show that a single locus containing the RAR related orphan receptor B gene (RORB) explains the atypical gait of these rabbits. We found that a splice-site mutation in an evolutionary conserved site of RORB results in several aberrant transcript isoforms incorporating intronic sequence. This mutation leads to a drastic reduction of RORB-positive neurons in the spinal cord, as well as defects in differentiation of populations of spinal cord interneurons. Our results show that RORB function is required for the performance of saltatorial locomotion in rabbits.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009429&type=printable |
| spellingShingle | Miguel Carneiro Jennifer Vieillard Pedro Andrade Samuel Boucher Sandra Afonso José A Blanco-Aguiar Nuno Santos João Branco Pedro J Esteves Nuno Ferrand Klas Kullander Leif Andersson A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. PLoS Genetics |
| title | A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. |
| title_full | A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. |
| title_fullStr | A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. |
| title_full_unstemmed | A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. |
| title_short | A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. |
| title_sort | loss of function mutation in rorb disrupts saltatorial locomotion in rabbits |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009429&type=printable |
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