GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001327
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Liangshan pig-black coat
Trait State in Taxon B
Liangshan pig-blond coat
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
Show more ... ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Liangshan pig-black coat
Taxon B
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
Show more ... hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Liangshan pig-blond coat
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
g.17599_17604del 6bp deletion in exon 8 resulting in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein
Experimental Evidence
Authors
Wu X; Zhang Y; Shen L; Du J; Luo J; Liu C; Pu Q; Yang R; et al. ... show more
Abstract
Melanocortin receptor 1 (MC1R), Agouti signaling protein (ASIP), and Tyrosinase-related protein 1 (TYRP1) are reported critical genes that regulate pheomelanin and eumelanin synthesis in mammals. Liangshan pig is a special Chinese indigenous pig breed with two completely different coat colors, solid black and blond. In this study, we detected polymorphisms of the above three genes and assessed the relationships between the variations and coat color phenotypes in Liangshan pigs. The findings revealed that the blond phenotype of Liangshan pig was related to dominant mutations in TYRP1, but not related to mutations in MC1R or ASIP. We found three closely linked mutations in TYRP1, g.8406G>A in intron 4, g.11100A>G in intron 5, and g.17599_17604del in exon 8, that were completely associated with blond coat color in Liangshan pigs. Further analysis revealed that a 6-bp deletion mutation resulted in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein, and altered the structure of transmembrane domain of TYRP1. Together, our findings indicated that these three mutations in TYRP1 cause the blond phenotype in Liangshan pigs.

Copyright © 2015 Elsevier B.V. All rights reserved.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
COMMENTS
the deletion is associated in the same haplotype with 2 substitutions g.8406G>A and g.11100A>G in introns 4-5
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