GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000919
Main curator
Martin
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait
Trait State in Taxon A
Sus scrofa - White Duroc
Trait State in Taxon B
Sus scrofa- Erhualian (large ears; wrinkly skin)
Trait #2
Trait Category
Trait
Trait State in Taxon A
-
Trait State in Taxon B
-
Ancestral State
Data not curated
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
Sus scrofa - White Duroc
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
Sus scrofa- Erhualian (large ears; wrinkly skin)
GENOTYPIC CHANGE
Generic Gene Name
PPARD
Synonyms
FAAR; NUC1; NUCI; NR1C2; NUCII; PPARB
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR1 subfamily.
GO - Biological Process
GO:0007275 : multicellular organism development ... show more
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
G32E
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Gly Asp 32
Authors
Ren J; Duan Y; Qiao R; Yao F; Zhang Z; Yang B; Guo Y; Xiao S; et al. ... show more
Abstract
Chinese Erhualian is the most prolific pig breed in the world. The breed exhibits exceptionally large and floppy ears. To identify genes underlying this typical feature, we previously performed a genome scan in a large scale White Duroc × Erhualian cross and mapped a major QTL for ear size to a 2-cM region on chromosome 7. We herein performed an identical-by-descent analysis that defined the QTL within a 750-kb region. Historically, the large-ear feature has been selected for the ancient sacrificial culture in Erhualian pigs. By using a selective sweep analysis, we then refined the critical region to a 630-kb interval containing 9 annotated genes. Four of the 9 genes are expressed in ear tissues of piglets. Of the 4 genes, PPARD stood out as the strongest candidate gene for its established role in skin homeostasis, cartilage development, and fat metabolism. No differential expression of PPARD was found in ear tissues at different growth stages between large-eared Erhualian and small-eared Duroc pigs. We further screened coding sequence variants in the PPARD gene and identified only one missense mutation (G32E) in a conserved functionally important domain. The protein-altering mutation showed perfect concordance (100%) with the QTL genotypes of all 19 founder animals segregating in the White Duroc × Erhualian cross and occurred at high frequencies exclusively in Chinese large-eared breeds. Moreover, the mutation is of functional significance; it mediates down-regulation of β-catenin and its target gene expression that is crucial for fat deposition in skin. Furthermore, the mutation was significantly associated with ear size across the experimental cross and diverse outbred populations. A worldwide survey of haplotype diversity revealed that the mutation event is of Chinese origin, likely after domestication. Taken together, we provide evidence that PPARD G32E is the variation underlying this major QTL.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001579/9823/
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