Selective breeding by humans has led to some incredibly odd and unfortunate pets over the years, and the sauteur d'Alfort rabbit is among the strangest of the lot.
This rare breed of bunny does not hop or walk like any other rabbit or hare in existence. When the sauteur is ready to go, it kicks its hind legs into the air and bounces forward on its front paws, like a human acrobat walking on their hands.
While this may seem like an amusing trait, it sadly comes with other debilitating problems too. Now, the one bunny that can't hop properly has helped us better understand the genetics of hopping in mammals.
Crossing a single male sauteur with a single female of the New Zealand white breed and then crossing the resulting offspring, researchers raised 52 bunnies, 23 percent of which carried two copies of the mutant gene similar to the original father.These numbers match the statistics expected when there is only one recessive gene involved in a mutation.
Pooling the DNA of the sauteur and non-sauteur young, researchers used whole-genome sequencing to compare the two groups. In the end - as they anticipated - there was only one gene that stood out.
The cause of the sauteur's defective jumping appears to lie with a mutation in an evolutionary conserved site of a gene known as RORB, which provides instructions to mammalian cells so they can create certain proteins.
RORB proteins are generally found throughout the rabbit nervous system, where they help turn genetic code into a protein building template. This particular mutation, however, causes a sharp decrease in the number of spinal cord neurons that can actually produce this protein.
Two copies of the RORB mutation, in fact, resulted in no proteins in the spinal cord at all, and this was tied to an inability to hop.Other rabbits in the litter capable of jumping with their hind legs showed no such protein loss.
The RORB gene, the authors conclude, must be what allows rabbits to bound around. It could also be the key to other mammal hopping, too.
Over the years, there's been a lot of scientific interest in the special physiology and biomechanics that allow mammals-like kangaroos, bunnies, hares and some mice - to hop, but the underlying genetics of this feat have rarely been considered.
One of the few studies out there recently found mice with the same RORB mutation as sauteur rabbits alsocannot hop like normal. Instead, these rodents waddle around on their front paws like a duck, with their tails and hind legs sticking up in the air.
"I spent four years looking at these mice doing little handstands, and now I get to see a rabbit do the same handstand," neuroscientist Stephanie Koch from the University College London told Science News. "It's amazing."
Koch's study on rabbits is the first to describe a specific gene required for leaping or hopping, and it lines up extremely well with what she's been observing in mutant mice.
Similar to mutant rodents, sauteur rabbits also show other anatomical defects beyond their strange walk. Many are born blind and develop cataracts in their first year of life. RORB knock-out mice also show retinal degeneration.
In mice, the RORB gene appears to play an essential role in differentiating cells in both the brain's cortex and the retina. It might also do something similar in the spinal cord, which is involved in the regulation of sensory information and locomotion among mammals.
As such, this lack of proteins might be what is causing the hind legs of rabbits and mice to lift instead of leaping. In sauteur rabbits, for instance, the RORB mutation appears to cause defects in the differentiation of spinal cord interneurons, although whether this is actually causing the bizarre locomotion remains unclear.
"In addition to its expression in the spinal cord, RORB is also expressed in many regions in the brain such as the primary somatosensory, auditory, visual and motor cortex, in some thalamus and hypothalamus nuclei, in the pituitary gland and in the superior colliculus," the authors write.
"Thus, we cannot exclude the possibility that an alteration of RORB function in the brain contributes to the locomotion phenotype characteristic for the sauteur rabbits."
The effects of the RORB mutation will require more study, but it's obvious it's involved somehow. This was theonly variant identified in the whole genome sequence of rabbits that had any impact on hopping.
While there might well be more genes involved in bunny hopping, it seems that poor sauteur rabbits have certainly pointed us in the direction of one.
The study was published in PLOS Genetics.
Read more:
We Finally Know The Genetic Reason Why This Bunny Walks on Its Front Paws - ScienceAlert
- Copy number variation of the restorer Rf4 underlies human selection ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- NYU Langone Health in the NewsThursday, November 9, 2023 - NYU Langone Health - November 15th, 2023 [November 15th, 2023]
- Eugenics: Plaguing scientific community with dark history | Opinion ... - The Arkansas Traveler - November 15th, 2023 [November 15th, 2023]
- Cranberries can bounce, float and pollinate themselves: The saucy ... - Japan Today - November 15th, 2023 [November 15th, 2023]
- Government Housing Assistance Linked to Increased Cancer ... - HealthDay - November 15th, 2023 [November 15th, 2023]
- Rate of New Lung Cancer Cases Has Decreased Over Last Five Years - HealthDay - November 15th, 2023 [November 15th, 2023]
- Clinically relevant antibiotic resistance genes are linked to a limited ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- Disparities in Guideline-Concordant Care Found for Black CRC ... - HealthDay - November 15th, 2023 [November 15th, 2023]
- Mathematician Heather Harrington is new director at the Max Planck ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- New study finds genetic testing can effectively identify patients with ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- STK11 loss leads to YAP1-mediated transcriptional activation in ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- CRISPR-broad: combined design of multi-targeting gRNAs and ... - Nature.com - November 15th, 2023 [November 15th, 2023]
- Master regulator of the dark genome greatly improves cancer T-cell ... - Science Daily - November 15th, 2023 [November 15th, 2023]
- Omega Therapeutics Showcases Bidirectional and Multiplexed ... - BioSpace - November 15th, 2023 [November 15th, 2023]
- Today is International 15q Day - ASBMB Today - November 15th, 2023 [November 15th, 2023]
- Evolution of taste: Sharks were already able to perceive bitter ... - EurekAlert - November 15th, 2023 [November 15th, 2023]
- Stanford Scientists Uncover New Indicators of Health, Disease, and ... - SciTechDaily - October 16th, 2023 [October 16th, 2023]
- NHGRI Director Eric Green elected to the National Academy of ... - National Human Genome Research Institute - October 16th, 2023 [October 16th, 2023]
- Monkey survives for two years after gene-edited pig-kidney transplant - Nature.com - October 16th, 2023 [October 16th, 2023]
- Opinion: Interest in RNA Editing Accelerates as Therapies Approach ... - BioSpace - October 16th, 2023 [October 16th, 2023]
- Regulation of dermal fibroblasts by human neutrophil peptides ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Consistent effects of the genetics of happiness across the lifespan ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Storytelling through the looking glass of genetics The Stute - The Stute - October 16th, 2023 [October 16th, 2023]
- Pet dogs shed light on human health, researchers say - UPI News - October 16th, 2023 [October 16th, 2023]
- Native microbiome dominates over host factors in shaping the ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Illinois-led project to sequence soybean genomes, improve future ... - Herald-Whig - October 16th, 2023 [October 16th, 2023]
- Unrealized targets in the discovery of antibiotics for Gram-negative ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- How Biotech And AI Are Transforming The Human - Noema Magazine - October 16th, 2023 [October 16th, 2023]
- The Many Lives of Alexandria Forbes - BioSpace - October 16th, 2023 [October 16th, 2023]
- CEP20 promotes invasion and metastasis of non-small cell lung ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Genotyping, sequencing and analysis of 140,000 adults from Mexico ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- The role and impact of alternative polyadenylation and miRNA ... - Nature.com - October 16th, 2023 [October 16th, 2023]
- Human - Simple English Wikipedia, the free encyclopedia - January 30th, 2023 [January 30th, 2023]
- Deep Dive Ties Together Dog Genetics, Brain Physiology and Behavior to Explain Why Collies Are Different from Terriers - Scientific American - December 12th, 2022 [December 12th, 2022]
- How oxytocin drives connections of newly integrated adult-born neurons: Research - Hindustan Times - December 12th, 2022 [December 12th, 2022]
- Alzheimer's Disease Genetics Fact Sheet - National Institute on Aging - December 2nd, 2022 [December 2nd, 2022]
- Human genetic clustering - Wikipedia - November 23rd, 2022 [November 23rd, 2022]
- Human Genome Project Fact Sheet - November 23rd, 2022 [November 23rd, 2022]
- Abstracts | International Congress of Human Genetics 2023 - November 23rd, 2022 [November 23rd, 2022]
- Ancient DNA and Neanderthals | The Smithsonian Institution's Human ... - November 16th, 2022 [November 16th, 2022]
- Biological Influences on Human Behavior: Genetics & Environment - November 16th, 2022 [November 16th, 2022]
- Fluent BioSciences showcasing breakthrough solutions to enable unprecedented scale, cost-efficiency and access for single-cell RNA sequencing at the... - October 28th, 2022 [October 28th, 2022]
- Human behaviour genetics - Wikipedia - October 23rd, 2022 [October 23rd, 2022]
- Nucleome Therapeutics raises oversubscribed 37.5 million Series A financing to decode the dark matter of the human genome and deliver first-in-class... - October 19th, 2022 [October 19th, 2022]
- Gladstone data scientist elected to the National Academy of Medicine - EurekAlert - October 19th, 2022 [October 19th, 2022]
- Ocugen to Host R&D Day in New York City on Tuesday, November 1, 2022 - Yahoo Finance - October 19th, 2022 [October 19th, 2022]
- Pharmacy researcher earns $2.3 million NIH award to study opioid addiction - EurekAlert - October 19th, 2022 [October 19th, 2022]
- Study shows age often plays a bigger role than genetics in gene expression and susceptibility to disease - Anti Aging News - October 19th, 2022 [October 19th, 2022]
- CSRWire - Direct Relief, Amgen and C/Can Team Up To Improve Access to Breast Cancer Diagnostics and Treatment in Paraguay - CSRwire.com - October 19th, 2022 [October 19th, 2022]
- Maze Therapeutics Appoints Harold Bernstein, M.D., Ph.D., as President, Research and Development and Chief Medical Officer - Business Wire - October 19th, 2022 [October 19th, 2022]
- New Rare Disease Therapy Effectively Lowers Plasma Phe in Patients with PKU - MD Magazine - October 19th, 2022 [October 19th, 2022]
- GSK : announces expanded collaboration with Tempus in precision medicine to accelerate R&D - Marketscreener.com - October 19th, 2022 [October 19th, 2022]
- Famous Scientific Discoveries That Changed the Course of History - 24/7 Wall St. - October 19th, 2022 [October 19th, 2022]
- Construction workers seek fulfilment of their demands - Star of Mysore - October 19th, 2022 [October 19th, 2022]
- Genetics | The Smithsonian Institution's Human Origins Program - October 13th, 2022 [October 13th, 2022]
- Genetics - Wikipedia - October 13th, 2022 [October 13th, 2022]
- Study looking at human genetics and Covid vaccine immune responses - Science Media Centre - October 13th, 2022 [October 13th, 2022]
- ASHG 2022 in Los Angeles brings together researchers from around the world to advance discoveries in genetics, genomics research - EurekAlert - October 13th, 2022 [October 13th, 2022]
- Maze Therapeutics Appoints Harold Bernstein, M.D., Ph.D., as President, Research and Development and Chief Medical Officer - Yahoo Finance - October 13th, 2022 [October 13th, 2022]
- The Age of the Pangenome Dawns - DNA Science - PLOS - October 13th, 2022 [October 13th, 2022]
- Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome - Nature.com - October 13th, 2022 [October 13th, 2022]
- Genome editing technologies: final conclusions of the re-examination of Article 13 of the Oviedo Convention - Council of Europe - October 13th, 2022 [October 13th, 2022]
- Global Biobank Meta-analysis Initiative making genome-wide association studies more diverse and representative - EurekAlert - October 13th, 2022 [October 13th, 2022]
- New NHS genetic testing service could save thousands of children in England - The Guardian - October 13th, 2022 [October 13th, 2022]
- Covid protection may be boosted by genes, study shows - Yahoo News Australia - October 13th, 2022 [October 13th, 2022]
- Genomics in Cancer Care Market is estimated to be US$ 72.61 billion by 2032 with a CAGR of 16.3% during the forecast period 2032 - By PMI -... - October 13th, 2022 [October 13th, 2022]
- Identification of hub genes and candidate herbal treatment in obesity through integrated bioinformatic analysis and reverse network pharmacology |... - October 13th, 2022 [October 13th, 2022]
- Our *Homo sapiens* ancestors shared the world with Neanderthals, Denisovans and other types of humans whose DNA lives on in our genes -... - October 8th, 2022 [October 8th, 2022]
- Blue Eyed People Have a Single Ancestor | History of Yesterday - History of Yesterday - October 6th, 2022 [October 6th, 2022]
- Heart infection could be cause of death of Polish, US hero - ABC News - October 6th, 2022 [October 6th, 2022]
- 23andMe Announces Trials-in-Progress Poster Presentation on 23ME-00610, An Investigational Antibody Targeting CD200R1, at The Society for... - October 6th, 2022 [October 6th, 2022]
- The Genetic Drivers Of Longevity In Mice, Humans And Worms - Science 2.0 - October 6th, 2022 [October 6th, 2022]
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma | Communications Biology - Nature.com - October 6th, 2022 [October 6th, 2022]
- 'Neanderthal Man' Nobel Prize winner Svante Pbo revolutionized anthropology. Here is a look back at his groundbreaking 2014 memoir - Genetic Literacy... - October 6th, 2022 [October 6th, 2022]
- Understanding Human Genetic Variation - NCBI Bookshelf - September 14th, 2022 [September 14th, 2022]
- Genetics - National Institute of General Medical Sciences (NIGMS) - September 14th, 2022 [September 14th, 2022]
- People with ME invited to take part in major genetic study - The Independent - September 14th, 2022 [September 14th, 2022]
- Ketamine Promising for Rare Condition Linked to Autism - Medscape - September 14th, 2022 [September 14th, 2022]
- How a small, unassuming fish helps reveal gene adaptations - University of Wisconsin-Madison - September 14th, 2022 [September 14th, 2022]
- How Nutrigenomics Explores Links Between Nutrition And Genes - Health Digest - September 14th, 2022 [September 14th, 2022]