A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits

J Appl Genet. 2015 Nov;56(4):535-537. doi: 10.1007/s13353-015-0290-9. Epub 2015 May 23.


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.

Keywords: BCO2; Carotenoids; Deletion mutation; Rabbits; Yellow fat.

MeSH terms

  • Adipose Tissue*
  • Animals
  • Asparagine
  • Dioxygenases / genetics*
  • Exons
  • Genotype
  • Genotyping Techniques
  • INDEL Mutation
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Rabbits / genetics*
  • Sequence Deletion*


  • Asparagine
  • Dioxygenases