GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001335
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Donkey
Trait State in Taxon B
Donkey - no light points pattern (in Normand & miniature donkeys)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
ass
Synonyms
ass; African ass; African wild ass; Somali wild ass; domestic ass; donkey
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Asinus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Donkey
Taxon B
Latin Name
Common Name
ass
Synonyms
ass; African ass; African wild ass; Somali wild ass; domestic ass; donkey
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Asinus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Donkey - no light points pattern (in Normand & miniature donkeys)
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.349T>C p.Cys117Arg
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Cys Arg` 117
Authors
Abitbol M; Legrand R; Tiret L
Abstract
Seven donkey breeds are recognized by the French studbook and are characterized by a black, bay or grey coat colour including light cream-to-white points (LP). Occasionally, Normand bay donkeys give birth to dark foals that lack LP and display the no light points (NLP) pattern. This pattern is more frequent and officially recognized in American miniature donkeys. The LP (or pangare) phenotype resembles that of the light bellied agouti pattern in mouse, while the NLP pattern resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP).

We used a panel of 127 donkeys to identify a recessive missense c.349 T > C variant in ASIP that was shown to be in complete association with the NLP phenotype. This variant results in a cysteine to arginine substitution at position 117 in the ASIP protein. This cysteine is highly-conserved among vertebrate ASIP proteins and was previously shown by mutagenesis experiments to lie within a functional site. Altogether, our results strongly support that the identified mutation is causative of the NLP phenotype.

Thus, we propose to name the c.[349 T > C] allele in donkeys, the a(nlp) allele, which enlarges the panel of coat colour alleles in donkeys and ASIP recessive loss-of-function alleles in animals.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
COMMENTS
mutation is recessive; https://omia.org/OMIA000201/9793/
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