GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002236
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Valais Blacknecked goat ; black forequarters and white hindquarters
Trait State in Taxon B
brown instead of black forequarters in Coppernecked goat
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.1487G>A p.Gly496Asp
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Gly Asp 496
Authors
Becker D; Otto M; Ammann P; Keller I; Drögemüller C; Leeb T
Abstract
The recent development of a goat SNP genotyping microarray enables genome-wide association studies in this important livestock species. We investigated the genetic basis of the black and brown coat colour in Valais Blacknecked and Coppernecked goats. A genome-wide association analysis using goat SNP50 BeadChip genotypes of 22 cases and 23 controls allowed us to map the locus for the brown coat colour to goat chromosome 8. The TYRP1 gene is located within the associated chromosomal region, and TYRP1 variants cause similar coat colour phenotypes in different species. We thus considered TYRP1 as a strong positional and functional candidate. We resequenced the caprine TYRP1 gene by Sanger and Illumina sequencing and identified two non-synonymous variants, p.Ile478Thr and p.Gly496Asp, that might have a functional impact on the TYRP1 protein. However, based on the obtained pedigree and genotype data, the brown coat colour in these goats is not due to a single recessive loss-of-function allele. Surprisingly, the genotype distribution and the pedigree data suggest that the (496) Asp allele might possibly act in a dominant manner. The (496) Asp allele was present in 77 of 81 investigated Coppernecked goats and did not occur in black goats. This strongly suggests heterogeneity underlying the brown coat colour in Coppernecked goats. Functional experiments or targeted matings will be required to verify the unexpected preliminary findings.

© 2014 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001249/9925/
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