Impurrrfect DNA: Genome defects in celebrity cat Lil Bub explain her kitten-sized frame and why her mouth is always open – and that she’s related to Ernest Hemingway’s pets
- Lil Bub is known for distinctive features which earned her millions of fans
- The seven-year-old is kitten-sized as she stopped growing at seven months
- This is down to osteopetrosis, a rare disease that causes bones to grow denser
- She also has two extra digits on her front two paws, the same variant associated with Ernest Hemingway’s cats
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Lil Bub, a celebrity internet cat, owes her unusual and distinctive appearance to two rare genetic defects, scientists have discovered.
The famous feline is known for her distinctive green eyes, surprised expression and permanently open mouth, earning her two million Instagram followers.
The seven-year-old feline is kitten-sized because she stopped growing at seven months, has a short turned-up nose and her pink tongue sticks out from her jaw.
She also has two extra digits on her two front paws, the same variant associated with Ernest Hemingway’s cats at his former home in Key West.
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Scientists have discovered that Lil Bub, a famous internet cat, owes her unusual and distinctive appearance to two rare genetic defects. Lil Bub is known for her kitten-sized frame, surprised expression and permanently open mouth, earning her millions of Instagram followers
Now a team of geneticists, including from the Berlin Institute for Medical Systems Biology, have revealed that her ‘magical’ appeal is down to two distinct variants in her DNA.
In 2014, molecular biologists Darío G. Lupiáñez and Dr Daniel Ibrahim stumbled across one of her videos.
They realised Lil BUB´s unique features might be caused by genetic mutations similar to those they had been studying in human patients and mice with rare bone diseases.
After asking Lil Bub’s owner for a blood sample they analysed her genetic make-up and were able to diagnose her with two congenital defects.
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The first is infantile malignant osteopetrosis, a rare disease that causes bones to grow progressively denser as she grows older, which also causes her stature and short snout.
The defect was found in roughly fifteen humans and one mouse that share similar physical features to Lil Bub.
Their research is the first time this type of osteopetrosis has been described in felines.
Throughout their research, the team documented their findings in a Twitter Feed they called BUBome. After asking Lil Bub’s owner for a blood sample they analysed her genetic make-up and were able to diagnose her with two congenital defects
Lil Bub has two extra digits on her two front paws, the same variant associated with Ernest Hemingway’s cats at his former home in Key West. Polydactyly is a genetic condition that causes an individual to be born with extra digits
The second is polydactyly, a genetic condition which can occur in multiple species, causing an individual to be born with extra fingers or toes.
They found a genealogical link from Lil Bub to Ernest Hemingway’s cats, a tribe of six-toed cats that live at the author’s former home in Key West.
The scientists found that the mutation differs from those causing polydactyly in cats outside America, suggesting Lil Bub is a descends from a common ancestor.
Nothing was previously known of Lil Bub’s antecedents because it was discovered as a feral kitten.
A colony of about 50 descendants still has its home at the Ernest Hemingway Museum in Key West, Florida.
The seven-year-old feline is kitten-sized because she stopped growing at seven months, has a short turned-up nose and her pink tongue sticks out from her jaw. Now geneticists, from Germany and the US, have revealed that her appeal is down to two distinct variants in her DNA
In 2014, molecular biologists Darío G. Lupiáñez and Dr Daniel Ibrahim stumbled across one of her videos. They realised Lil BUB´s unique features might be caused by genetic mutations similar to those they had been studying in human patients and mice with rare bone diseases
‘We were curious and wanted to look at her genome. Since developmental processes, like bone formation, are quite conserved across mammals, we hypothesized that identifying the causative mutations underlying BUB´s phenotypes might improve our understanding of these rare diseases also in humans’, said Dr Ibrahim.
The researchers said that their discovery of the malignant osteopetrosis in Lil Bub’s genome could give clues for treatment in humans suffering from the rare disease.
It was known since the cat’s infancy that it had feline dwarfism and osteopetrosis, but now they know that it is caused by a variant in a gene that has also been linked to osteopetrosis in humans.
Throughout their research, the team documented their findings in a Twitter Feed they called BUBome.
The findings were published in the journal biorXiv.
ERNEST HEMINGWAY’S CATS
Ernest Hemingway pictured at breakfast with a group of polydactyl cats feeding at his feet
Ernest Hemingway was a cat lover who kept them at the home he shared with his second wife Pauline Pfeiffer at their Spanish Colonial house in Key West, Florida.
The Ernest Hemingway Home and Museum is home to approximately 40-50 polydactyl (six-toed) cats.
Polydactyly is a genetic condition that causes an individual to be born with extra digits. It is inherited from a dominant gene, and can occur in multiple species.
The writer was given a white six-toed cat in the 1930’s by a ship’s captain and some of the cats who live on the museum grounds are descendants of that original cat, named Snow White.
To this day, many of Snow White’s descendants roam the grounds of Hemingway Home, and because Key West is so small, it’s not unlikely that many of the cats on the island are related.
About half of the cats at the museum have the physical polydactyl trait but they all carry the polydactyl gene in their DNA, which means that the ones that have 4 and 5 toes can still mother or father six-toed kittens.
There are 54 cats living on the property, all descended from Snow White.
To this day, many of Snow White’s descendants roam the grounds of Hemingway Home, and because Key West is so small, it’s not unlikely that many of the cats on the island are related
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