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Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly

Mike Bridavsky, Heiner Kuhl, Arthur Woodruff, Uwe Kornak, Bernd Timmermann, Norbert Mages, 99 Lives Consortium, View ORCID ProfileDarío G. Lupiáñez, View ORCID ProfileOrsolya Symmons, View ORCID ProfileDaniel M. Ibrahim
doi: https://doi.org/10.1101/556761
Mike Bridavsky
1Lil BUB LLC, Bloomington, IN 47401, USA
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Heiner Kuhl
2Department of Ecophysiology and Aquaculture, Leibniz Institute for Freshwater Ecology and Inland Fisheries, Berlin, Germany
3Max Planck Institute for Molecular Genetics, Sequencing Core Facility, Berlin, Germany
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Arthur Woodruff
4Pet Housecalls Inc., Clear Creek, IN 47401, USA
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Uwe Kornak
5Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
6Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany
7Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, D 13353 Berlin, Germany
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Bernd Timmermann
3Max Planck Institute for Molecular Genetics, Sequencing Core Facility, Berlin, Germany
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Norbert Mages
3Max Planck Institute for Molecular Genetics, Sequencing Core Facility, Berlin, Germany
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Darío G. Lupiáñez
8Epigenetics and Sex Development Group, Berlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine, 13125 Berlin-Buch, Germany
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Orsolya Symmons
9Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA
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Daniel M. Ibrahim
5Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
6Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany
7Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, D 13353 Berlin, Germany
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  • ORCID record for Daniel M. Ibrahim
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Abstract

Rare diseases and their underlying molecular causes are often poorly studied, posing challenges for patient diagnosis and prognosis. The development of next-generation sequencing and its decreasing costs promises to alleviate such issues by supplying personal genomic information at a moderate price. Here, we used crowdfunding as an alternative funding source to sequence the genome of Lil BUB, a celebrity cat affected by rare disease phenotypes characterized by supernumerary digits, osteopetrosis and dwarfism, all phenotypic traits that also occur in human patients. We discovered that Lil BUB is affected by two distinct mutations: a heterozygous mutation in the limb enhancer of the Sonic hedgehog gene, previously associated with polydactyly in Hemingway cats; and a novel homozygous frameshift deletion affecting the TNFRSF11A (RANK) gene, which has been linked to osteopetrosis in humans. We communicated the progress of this project to a large online audience, detailing the ‘inner workings’ of personalized whole genome sequencing with the aim of improving genetic literacy. Our results highlight the importance of genomic analysis in the identification of disease-causing mutations and support crowdfunding as a means to fund low-budget projects and as a platform for scientific communication.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted February 22, 2019.
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Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly
Mike Bridavsky, Heiner Kuhl, Arthur Woodruff, Uwe Kornak, Bernd Timmermann, Norbert Mages, 99 Lives Consortium, Darío G. Lupiáñez, Orsolya Symmons, Daniel M. Ibrahim
bioRxiv 556761; doi: https://doi.org/10.1101/556761
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Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly
Mike Bridavsky, Heiner Kuhl, Arthur Woodruff, Uwe Kornak, Bernd Timmermann, Norbert Mages, 99 Lives Consortium, Darío G. Lupiáñez, Orsolya Symmons, Daniel M. Ibrahim
bioRxiv 556761; doi: https://doi.org/10.1101/556761

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