GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002152
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
New Zealand Red (NZR) with white fat
Trait State in Taxon B
New Zealand Red (NZR) with yellow fat (autosomal recessive)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
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nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
BCO2
Synonyms
BCDO2; B-DIOX-II
String
Sequence Similarities
Belongs to the carotenoid oxygenase family.
GO - Molecular Function
GO:0046872 : metal ion binding
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GO - Biological Process
GO:0055114 : oxidation-reduction process
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GO - Cellular Component
GO:0005739 : mitochondrion
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UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp
Experimental Evidence
Main Reference
Authors
Strychalski J; Brym P; Czarnik U; Gugołek A
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.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001079/9986/
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