title: A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.
abstract: The carcasses of yellow-fat rabbits may be attractive to modern consumers, because they have a relatively high content of biologically active compounds. One of the main candidate genes associated with the yellow-fat trait is β-carotene 9',10'-oxygenase (BCO2). This study is the first report of the novel AAT-deletion mutation at codon 248 of the BCO2 gene, which has been found in homozygous yellow-fat rabbits. The deletion mutation, located at the beginning of exon 6, results in the absence of asparagine in protein. We also developed a PCR-RFLP test that supports intravital genotyping of indel polymorphism based on genomic DNA.
authors.affiliation: Department of Fur-bearing Animal Breeding and Game Management, University of Warmia and Mazury, Olsztyn, Poland. janusz.strychalski@uwm.edu.pl.
authors.forename: Janusz
authors.initials: J
authors.lastname: Strychalski
authors.affiliation: Department of Animal Genetics, University of Warmia and Mazury, Olsztyn, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Brym
authors.affiliation: Department of Animal Genetics, University of Warmia and Mazury, Olsztyn, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Czarnik
authors.affiliation: Department of Fur-bearing Animal Breeding and Game Management, University of Warmia and Mazury, Olsztyn, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Gugołek
mesh_terms: D000273:Adipose Tissue; D000818:Animals; D001216:Asparagine; D049308:Dioxygenases / Q000235:genetics*; D005091:Exons; D005838:Genotype; D060005:Genotyping Techniques; D054643:INDEL Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011817:Rabbits / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D001216:Asparagine; D049308:Dioxygenases
keywords: BCO2; Carotenoids; Deletion mutation; Rabbits; Yellow fat