GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001162
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Other mammals
Trait State in Taxon B
Sus scrofa; wild boars; Bornean bearded pig (S.barbatus); wart hog (Phacochoerus africanus); and red river hog(Potamochoerus porcus).
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
mammals
Synonyms
mammals
Rank
class
Lineage
Show more ... Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
-
Rank
genus
Lineage
Show more ... Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Ucp1
Synonyms
Ucp; Slc25a7; AI385626
Sequence Similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-10 kb
Molecular Details of the Mutation
deletion of exons 3 to 5
Experimental Evidence
Authors
Berg F; Gustafson U; Andersson L
Abstract
Piglets appear to lack brown adipose tissue, a specific type of fat that is essential for nonshivering thermogenesis in mammals, and they rely on shivering as the main mechanism for thermoregulation. Here we provide a genetic explanation for the poor thermoregulation in pigs as we demonstrate that the gene for uncoupling protein 1 (UCP1) was disrupted in the pig lineage. UCP1 is exclusively expressed in brown adipose tissue and plays a crucial role for thermogenesis by uncoupling oxidative phosphorylation. We used long-range PCR and genome walking to determine the complete genome sequence of pig UCP1. An alignment with human UCP1 revealed that exons 3 to 5 were eliminated by a deletion in the pig sequence. The presence of this deletion was confirmed in all tested domestic pigs, as well as in European wild boars, Bornean bearded pigs, wart hogs, and red river hogs. Three additional disrupting mutations were detected in the remaining exons. Furthermore, the rate of nonsynonymous substitutions was clearly elevated in the pig sequence compared with the corresponding sequences in humans, cattle, and mice, and we used this increased rate to estimate that UCP1 was disrupted about 20 million years ago.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
Note that the derived phenotype may have appeared during evolution due to another mutation; and that the mutation described here might have occurred subsequently; as a neutral mutation.
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