GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001968
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Oryctolagus cuniculus
Trait State in Taxon B
Oryctolagus cuniculus
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
1-9 bp
Molecular Details of the Mutation
an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids
Experimental Evidence
Authors
Fontanesi L; Forestier L; Allain D; Scotti E; Beretti F; Deretz-Picoulet S; Pecchioli E; Vernesi C; et al. ... show more
Abstract
The agouti locus encodes the agouti signalling protein (ASIP) which is involved in determining the switch from eumelanin to pheomelanin synthesis in melanocytes. In the domestic rabbit (Oryctolagus cuniculus) early studies indicated three alleles at this locus: A, light-bellied agouti (wild type); a(t), black and tan; a, black nonagouti. We characterized the rabbit ASIP gene and identified the causative mutation (an insertion in exon 2) of the black nonagouti allele whose frequency was evaluated in 31 breeds. Phylogenetic analysis of ASIP sequences from Oryctolagus and 9 other species of the family Leporidae placed Oryctolagus as sister species to Pentalagus and Bunolagus. Transcription analysis in wild type agouti rabbits revealed the presence of two major transcripts with different 5'-untranslated regions having ventral or dorsal skin specific expression. ASIP gene transcripts were also detected in all examined rabbit tissues distinguishing the rabbit expression pattern from what was observed in wild type mice.
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000201/9986/
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