GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001347
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Donkey ; wild type
Trait State in Taxon B
Donkey- Asinara white ; albino
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?
No
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- Asinara white ; albino
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.604C>G p.His202Asp
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Utzeri VJ; Bertolini F; Ribani A; Schiavo G; Dall'Olio S; Fontanesi L
Abstract
A feral donkey population (Equus asinus), living in the Asinara National Park (an island north-west of Sardinia, Italy), includes a unique white albino donkey subpopulation or colour morph that is a major attraction of this park. Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species. In this study, we analysed the donkey TYR gene as a strong candidate to identify the causative mutation of the albinism of these donkeys. The TYR gene was sequenced from 13 donkeys (seven Asinara white albino and six coloured animals). Seven single nucleotide polymorphisms were identified. A missense mutation (c.604C>G; p.His202Asp) in a highly conserved amino acid position (even across kingdoms), which disrupts the first copper-binding site (CuA) of functional protein, was identified in the homozygous condition (G/G or D/D) in all Asinara white albino donkeys and in the albino son of a trio (the grey parents had genotype C/G or H/D), supporting the recessive mode of inheritance of this mutation. Genotyping 82 donkeys confirmed that Asinara albino donkeys had genotype G/G whereas all other coloured donkeys had genotype C/C or C/G. Across-population association between the c.604C>G genotypes and the albino coat colour was highly significant (P = 6.17E-18). The identification of the causative mutation of the albinism in the Asinara white donkeys might open new perspectives to study the dynamics of this putative deleterious allele in a feral population and to manage this interesting animal genetic resource.

© 2015 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
COMMENTS
recessive
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