GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000168
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Ovis aries
Trait State in Taxon B
Ovis aries; Callipyge
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
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Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ...
Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Ovis aries; Callipyge in Rambouillet breed
GENOTYPIC CHANGE
Generic Gene Name
DIO3
Synonyms
5DIII; DIOIII
String
-
Sequence Similarities
Belongs to the iodothyronine deiodinase family.
GO - Molecular Function
GO - Biological Process
GO - Cellular Component
GO:0016021 : integral component of membrane
... show more
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Experimental Evidence
Main Reference
Authors
Takeda H; Caiment F; Smit M; Hiard S; Tordoir X; Cockett N; Georges M; Charlier C
Abstract
The callipyge mutation (CLPG) is an A to G transition that affects a muscle-specific long-range control element located in the middle of the 90-kb DLK1-GTL2 intergenic (IG) region. It causes ectopic expression of a 327-kb cluster of imprinted genes in skeletal muscle, resulting in the callipyge muscular hypertrophy and its non-Mendelian inheritance pattern known as polar overdominance. We herein demonstrate that the CLPG mutation alters the muscular epigenotype of the DLK1-GTL2 IG region in cis, including hypomethylation, acquisition of novel DNase-I hypersentivite sites, and, most strikingly, strongly enhanced bidirectional, long-range IG transcription. The callipyge phenotype thus emerges as a unique model to study the functional significance of IG transcription, which recently has proven to be a widespread, yet elusive, feature of the mammalian genome.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
Possible miRNA-mediated effect of the Callipyge mutation proposed in mouse ; https://omia.org/OMIA001354/9940/
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