GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002343
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
can jump
Trait State in Taxon B
cannot jump, bipedal gait using their front legs
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
Show more ... nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
Show more ... nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
sauteur d’Alfort
GENOTYPIC CHANGE
Presumptive Null
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
a change from GT to AT in the 5’ donor site of intron 9 (chr1: 61,103,503bp). The mutation disrupts the normal splicing of RORB.
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Carneiro M; Vieillard J; Andrade P; Boucher S; Afonso S; Blanco-Aguiar JA; Santos N; Branco J; et al. ... show more
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.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Splicing
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