{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Montandon SA"],"funding":["Fonds Général de l'Université de Genève","Sara Borrell grant","Human Frontier Science Program","Swiss National Science Foundation","Emile Plantamour Fund","Ernst and Lucie Schmidheiny Foundation"],"pagination":["73"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11948899"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(1)"],"pubmed_abstract":["<h4>Background</h4>Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement of chromatophores, but little is known of the mechanisms responsible for these spectacular traits. Here, we investigate a mono-locus trait with two recessive alleles, motley and stripe, that both cause pattern aberrations in the corn snake.<h4>Results</h4>We use mapping-by-sequencing to identify the genomic interval where the causal mutations reside. With our differential gene expression analyses, we find that CLCN2 (Chloride Voltage-Gated Channel 2), a gene within the genomic interval, is significantly downregulated in Motley embryonic skin. Furthermore, we identify the stripe allele as the insertion of an LTR-retrotransposon in CLCN2, resulting in a disruptive mut"],"journal":["Genome biology"],"pubmed_title":["Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake."],"pmcid":["PMC11948899"],"funding_grant_id":["CD22/00027","204466","10_2023","RGP0037/2022","140785","310030_204466","2024/12","31003A_140785","310030","23_28"],"pubmed_authors":["Ullate-Agote A","Andersson L","Tzika AC","Milinkovitch MC","Kummrow M","Roig-Puiggros S","Montandon SA","Beaudier P","Jabaudon D","Helleboid PY"],"additional_accession":[]},"is_claimable":false,"name":"Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake.","description":"<h4>Background</h4>Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement of chromatophores, but little is known of the mechanisms responsible for these spectacular traits. Here, we investigate a mono-locus trait with two recessive alleles, motley and stripe, that both cause pattern aberrations in the corn snake.<h4>Results</h4>We use mapping-by-sequencing to identify the genomic interval where the causal mutations reside. With our differential gene expression analyses, we find that CLCN2 (Chloride Voltage-Gated Channel 2), a gene within the genomic interval, is significantly downregulated in Motley embryonic skin. Furthermore, we identify the stripe allele as the insertion of an LTR-retrotransposon in CLCN2, resulting in a disruptive mut","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T22:59:40.875Z","creation":"2025-07-13T03:04:49.044Z"},"accession":"S-EPMC11948899","cross_references":{"pubmed":["40140900"],"doi":["10.1186/s13059-025-03539-0"]}}