{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Manakhov AD"],"funding":["Russian Foundation for Basic Research"],"pagination":["157"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7911072"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(2)"],"pubmed_abstract":["Sable (<i>Martes zibellina</i>) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (<i>TYRP1</i>). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the"],"journal":["Genes"],"pubmed_title":["Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene."],"pmcid":["PMC7911072"],"funding_grant_id":["19-34-90037"],"pubmed_authors":["Manakhov AD","Kashtanov SN","Onokhov AA","Mintseva MY","Andreeva TV","Filimonov PA","Chernova IЕ","Rogaev EI"],"additional_accession":[]},"is_claimable":false,"name":"Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene.","description":"Sable (<i>Martes zibellina</i>) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (<i>TYRP1</i>). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2026-04-07T21:22:34.453Z","creation":"2021-03-02T08:12:58Z"},"accession":"S-EPMC7911072","cross_references":{"pubmed":["33503951"],"doi":["10.3390/genes12020157"]}}