GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001619
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Corn snake with black borders
Trait State in Taxon B
Amelanistic corn snake with white borders
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
Elaphe guttata; ZMUU 147; ZMUU:147
Rank
species
Lineage
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ygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria; Squamata; Bifurcata; Unidentata; Episquamata; Toxicofera; Serpentes; Colubroidea; Colubridae; Colubrinae; Pantherophis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Corn snake with black borders
Taxon B
Latin Name
Common Name
-
Synonyms
Elaphe guttata; ZMUU 147; ZMUU:147
Rank
species
Lineage
Show more ...
ygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria; Squamata; Bifurcata; Unidentata; Episquamata; Toxicofera; Serpentes; Colubroidea; Colubridae; Colubrinae; Pantherophis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Corn snake with white borders
GENOTYPIC CHANGE
Generic Gene Name
OCA2
Synonyms
P; SHEP1; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; D15S12
String
Sequence Similarities
Belongs to the CitM (TC 2.A.11) transporter family.
GO - Molecular Function
GO:0005215 : transporter activity
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GO - Biological Process
GO:0042438 : melanin biosynthetic process
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GO - Cellular Component
GO:0016021 : integral component of membrane
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UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
100-999 bp
Molecular Details of the Mutation
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons
Experimental Evidence
Main Reference
Authors
Saenko SV; Lamichhaney S; Martinez Barrio A; Rafati N; Andersson L; Milinkovitch MC
Abstract
The corn snake (Pantherophis guttatus) is a new model species particularly appropriate for investigating the processes generating colours in reptiles because numerous colour and pattern mutants have been isolated in the last five decades. Using our captive-bred colony of corn snakes, transcriptomic and genomic next-generation sequencing, exome assembly, and genotyping of SNPs in multiple families, we delimit the genomic interval bearing the causal mutation of amelanism, the oldest colour variant observed in that species. Proceeding with sequencing the candidate gene OCA2 in the uncovered genomic interval, we identify that the insertion of an LTR-retrotransposon in its 11(th) intron results in a considerable truncation of the p protein and likely constitutes the causal mutation of amelanism in corn snakes. As amelanistic snakes exhibit white, instead of black, borders around an otherwise normal pattern of dorsal orange saddles and lateral blotches, our results indicate that melanocytes lacking melanin are able to participate to the normal patterning of other colours in the skin. In combination with research in the zebrafish, this work opens the perspective of using corn snake colour and pattern variants to investigate the generative processes of skin colour patterning shared among major vertebrate lineages.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@TE; possible null mutation
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