in 2011, the US-American Mike Bridavsky found in a shed in the U.S. state of Indiana is a strange cat. You had to look not only hypnotic silver, but also always from the muzzle hanging tongue, shortened legs, and six instead of five toes on the front paws. "Hey little Boy" should have called Bridavsky, before he took you in and – like so many cat owners – a photo on Tumblr uploaded. The Rest is history: Under the name of "Lil Bub" was the animal on Social Media Star (see lilbub.com), not least because it turned out that the animal is comfortable with "Snowball" related, the cat of the with bulls and fish in connection brought by US author Ernest Hemingway. Even Snowball had a lot of began affiliation (Polydactyly), and inherited. Even today, dozens of polydaktyle cats living on the Hemingway estate in Key West, Florida.
the genome of an Internet stars
Also in Berlin geneticist, a rare hereditary investigate developmental disorders in humans, heard of Lil Bub. "If we found the for Lil Bubs to look causative gene mutation, we could expand our understanding of these rare diseases in humans," the hope of Daniel Ibrahim from the Max-Planck-Institute for molecular genetics in Berlin-Dahlem. In 2015, he launched a Crowdfunding campaign on experiment.com in order to Finance the Deciphering of the genome of Lil Bub. Now the results of the "Lilbubome". Apparently, Lil Bub has the misfortune (or happiness?), with two very rare genetic syndromes life.Lilbubs owner Mike Bidavsky.Photo: Mike Bidavsky/lilbub.com
What is Lil Bub in the eyes of millions of Fans sweet "around the world" look, is the Erbanalyse according to a result of two mutations in important developmental genes. The extra toes come into existence by a Mutation in the Gene "Sonic hedgehog". The exchange of a single genetic block ("G" instead of "A") A interferes with the on and Off of the gene during the embryonic development of the limbs. It is in the cells where it actually should be, so that additional toes. It is the same Mutation that also leads to toes in the case of the Hemingway cats to Additional.
Just a missing block brings the bone growth-mess
The short legs, the small jaw and the other on the wrong growth of bones (Osteopetrosis) significant abnormalities not explained. The cause had to be genetic material in one of the other six million differences between the Lil Bubs and the reference genome of a "house cat".Lilbub has paws only a supernumerary toe on the front, but it also has an excessive bone growth, which...photo: D. Ibrahim
most of these deviations do not affect genes, so neither positive nor negative. To the few diseases trigger to filter out the mutations, to compare researchers normally, the genetic material of the "patients" with as close as possible, healthy Relatives – impossible in Lil bub's case, because Bridavsky could not even do the mother of his heirloom. So the researchers searched the genome data with the help of computers and the Knowledge of experts for bone defects. After many week of honour, ends the official work, the researchers found a Gene, a genetic component was missing and from which it is known that it is in the bone development of humans and mice is involved: RANK/TNFRSF11A.
call for participation
The Gene is to reduce necessary so that those cells are not functioning properly, the bone: osteoclasts, the counterpart of the bone-building osteoblasts. Only the Interaction of these two cell types is a healthy skeleton. In the case of Lil Bub, the Mutation led to that some of the bones growing in the embryonic development correctly. "We are sure that it is the Mutation is, the Lil Bubs Osteopetrosis caused," says Darío Lupiánez, from the Berlin Institute for Medical systems biology at the Max Delbrück center. For the avoidance of doubt, it calls the experts, the data on the platform BioRxiv and to look for other genetic defects, which could affect Lil Bubs appearance.