ArticlePLoS genetics2021
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- A pancreas-hippocampus feedback mechanism regulates circadian changes in depression-related behaviors.Nature neuroscience · 2025Article
- Neuroanatomical and neurochemical atlas of the spiny mouse (Acomys cahirinus) spinal cord.Brain structure & function · 2025Article
- Neurochemical atlas of the rabbit spinal cord.Brain structure & function · 2024Article
- Single-cell epigenomics and spatiotemporal transcriptomics reveal human cerebellar development.Nature communications · 2023Article
- An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.G3 (Bethesda, Md.) · 2023Article
- Decay of Skin-Specific Gene Modules in Pangolins.Journal of molecular evolution · 2023Article
- Comparative analysis of genomic inbreeding parameters and runs of homozygosity islands in several fancy and meat rabbit breeds.Animal genetics · 2022Article
- Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.Human molecular genetics · 2021Article
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Authors and funding
12 authors at 2 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.