Researchers in Portugal have managed to identify a gene responsible for a locomotive defect found in a particular breed of rabbit. The defect causes the rabbits to perform a “handstand” rather than hop when moving quickly. And while the handstand is both heartbreaking and awww-inducing, the results of the research may ultimately yield a way to prevent the defect. As well as give insight into how spinal cords work in general.
Science News reported on the discovery, which the researchers recently outlined in a study published in the journal PLOS Genetics. To find the gene responsible for the defect, the team bred the afflicted rabbit breed—known as sauteur d’Alfort rabbits—with a breed not afflicted by it.
By mating the two breeds, the researchers were able to produce some offspring capable of hopping normally and others only capable of the handstands. The researchers then sequenced the entire genomes of the different types of rabbits, seeking out genetic differences between the two.
When the researchers looked at the genomes, they found that the rabbits who handstand have a specific mutation to the “RAR related orphan receptor B” gene. Or the RORB gene. Usually, the RORB gene, which codes for the RORB protein, is found throughout a hopping animal’s nervous system. But for the rabbits that could only handstand, there was a significant decrease in neurons that produce the proteins.
M. Carneiro et al/PLOS Genetics 2021
The researchers conclude in their paper that RORB function is required for the performance of saltatorial—i.e. “leaping”—locomotion in rabbits. A finding that helps to bolster the idea that the RORB gene is critical for spinal function in other animals. And, perhaps, give insight into RORB gene mutation in humans, which can lead to epilepsy.
Feature image: M. Carneiro et al/PLOS Genetics 2021