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Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene
Univ Geneva, Dept Genet & Evolut, LANE, CH-1211 Geneva 4, Switzerland..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Molecular Evolution.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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2015 (English)In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 5, 17118Article in journal (Refereed) Published
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Abstract [en]

The corn snake (Pantherophis guttatus) is a new model species particularly appropriate for investigating the processes generating colours in reptiles because numerous colour and pattern mutants have been isolated in the last five decades. Using our captive-bred colony of corn snakes, transcriptomic and genomic next-generation sequencing, exome assembly, and genotyping of SNPs in multiple families, we delimit the genomic interval bearing the causal mutation of amelanism, the oldest colour variant observed in that species. Proceeding with sequencing the candidate gene OCA2 in the uncovered genomic interval, we identify that the insertion of an LTR-retrotransposon in its 11th intron results in a considerable truncation of the p protein and likely constitutes the causal mutation of amelanism in corn snakes. As amelanistic snakes exhibit white, instead of black, borders around an otherwise normal pattern of dorsal orange saddles and lateral blotches, our results indicate that melanocytes lacking melanin are able to participate to the normal patterning of other colours in the skin. In combination with research in the zebrafish, this work opens the perspective of using corn snake colour and pattern variants to investigate the generative processes of skin colour patterning shared among major vertebrate lineages.

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2015. Vol. 5, 17118
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Biochemistry and Molecular Biology Cell and Molecular Biology
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URN: urn:nbn:se:uu:diva-269968DOI: 10.1038/srep17118ISI: 000365194000001PubMedID: 26597053OAI: oai:DiVA.org:uu-269968DiVA: diva2:885606
Available from: 2015-12-19 Created: 2015-12-19 Last updated: 2017-12-01Bibliographically approved

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