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A loss-of-function ...
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits
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- Carneiro, Miguel (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.;Univ Porto, Fac Ciencias, Dept Biol, Porto, Portugal.
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- Vieillard, Jennifer (författare)
- Uppsala universitet,Kullander: Funktionella neuronala nätverk
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- Andrade, Pedro (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.
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- Boucher, Samuel (författare)
- Labovet Conseil Reseau Cristal, Les Herbiers, France.
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- Afonso, Sandra (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.
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- Blanco-Aguiar, José A. (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.
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- Santos, Nuno (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.
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- Branco, João (författare)
- Univ Porto, Fac Ciencias, Dept Biol, Porto, Portugal.
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- Esteves, Pedro J. (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.;Univ Porto, Fac Ciencias, Dept Biol, Porto, Portugal.
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- Ferrand, Nuno (författare)
- Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal.;Univ Porto, Fac Ciencias, Dept Biol, Porto, Portugal.;Univ Johannesburg, Fac Sci, Dept Zool, Auckland Pk, South Africa.
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- Kullander, Klas, 1966- (författare)
- Uppsala universitet,Kullander: Funktionella neuronala nätverk
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- Andersson, Leif (författare)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Texas A&M Univ, Coll Vet Med & Biomed Sci, Dept Vet Integrat Biosci, College Stn, TX 77843 USA; Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Uppsala University,Texas A&M University
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Univ Porto, Ctr Invest Biodiversidade & Recursos Genet, CIBIO InBIO, Vairao, Portugal;Univ Porto, Fac Ciencias, Dept Biol, Porto, Portugal. Kullander: Funktionella neuronala nätverk (creator_code:org_t)
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- 2021-03-25
- 2021
- Engelska.
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 17:3
- Relaterad länk:
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.Author summaryRabbits and hares have a characteristic jumping gait composed of an alternate rhythmical movement of the forelimbs and a synchronous bilateral movement of the hindlimbs. We have now characterized a recessive mutation present in a specific strain of domestic rabbits (sauteur d’Alfort) that disrupts the jumping gait. The mutation causing this defect in locomotion pattern occurs in the gene coding for the transcription factor RORB that is normally expressed in many regions of the nervous system especially in the spinal cord dorsal horn. Our results show that expression of RORB is drastically reduced in the spinal cord of affected rabbits which results in a developmental defect. This study is an advance in our understanding how locomotion is controlled in vertebrates.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- LANTBRUKSVETENSKAPER -- Bioteknologi med applikationer på växter och djur -- Genetik och förädling inom lantbruksvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Agricultural Biotechnology -- Genetics and Breeding in Agricultural Sciences (hsv//eng)
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Carneiro, Miguel
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Vieillard, Jenni ...
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Andrade, Pedro
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Boucher, Samuel
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Afonso, Sandra
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Blanco-Aguiar, J ...
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visa fler...
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Santos, Nuno
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Branco, João
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Esteves, Pedro J ...
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Ferrand, Nuno
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Kullander, Klas, ...
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Andersson, Leif
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Neurovetenskaper
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- LANTBRUKSVETENSKAPER
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LANTBRUKSVETENSK ...
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och Bioteknologi med ...
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och Genetik och förä ...
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PLOS Genetics
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Uppsala universitet
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Sveriges Lantbruksuniversitet