GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002373
Main curator
Santos
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
agouti-coloured coat
Trait State in Taxon B
black and tan coat colour
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
Show more ... 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
Common Name
rabbit
Synonyms
Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
Rank
species
Lineage
Show more ... 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
Presumptive Null
Yes
Molecular Type
Aberration Type
Insertion Size
10-100 kb
Molecular Details of the Mutation
"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype."
Experimental Evidence
Authors
Letko A; Ammann B; Jagannathan V; Henkel J; Leuthard F; Schelling C; Carneiro M; Drögemüller C; et al. ... show more
Abstract
Black and tan animals have tan-coloured ventral body surfaces separated by sharp boundaries from black-coloured dorsal body surfaces. In the a mouse mutant, a retroviral 6 kb insertion located in the hair cycle-specific promoter of the murine Asip gene encoding agouti signalling protein causes the black and tan phenotype. In rabbits, three ASIP alleles are thought to exist, including an a allele causing a black and tan coat colour that closely resembles the mouse black and tan phenotype. The goal of our study was to identify the functional genetic variant causing the rabbit a allele. We performed a WGS-based comparative analysis of the ASIP gene in one black and tan and three wt agouti-coloured rabbits. The analysis identified 75 a -associated variants including an 11 kb deletion. The deletion is located in the region of the hair cycle-specific ASIP promoter and thus in a region homologous to the site of the retroviral insertion causing the a allele in mice. We observed perfect association of the genotypes at this deletion with the coat colour phenotype in 49 rabbits. The comparative analysis and the previous knowledge about the regulation of ASIP expression suggest that the 11 kb deletion is the most likely causative variant for the black and tan phenotype in rabbits.

© 2019 Stichting International Foundation for Animal Genetics.
Additional References
EXTERNAL LINKS
COMMENTS
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