GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002195
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Ancestral sheep with long and hairy fleece ; Rustic Romanov breed
Trait State in Taxon B
Modern breeds with short and woolly fleece
Ancestral State
Taxon A
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?
Yes
Taxon A Description
-
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
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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 B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
IRF2BP2
Synonyms
CVID14
String
Sequence Similarities
Belongs to the IRF2BP family.
GO - Molecular Function
GO:0046872 : metal ion binding
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GO - Biological Process
GO - Cellular Component
GO:0005737 : cytoplasm
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UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
-
Molecular Details of the Mutation
insertion of an antisense EIF2S2 retrogene (asEIF2S2) into the 3′ UTR of the IRF2BP2 gene ; RNA-RNA hybrid creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA
Experimental Evidence
Authors
Demars J; Cano M; Drouilhet L; Plisson-Petit F; Bardou P; Fabre S; Servin B; Sarry J; et al.
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Abstract
The composition and structure of fleece variation observed in mammals is a consequence of a strong selective pressure for fiber production after domestication. In sheep, fleece variation discriminates ancestral species carrying a long and hairy fleece from modern domestic sheep (Ovis aries) owning a short and woolly fleece. Here, we report that the "woolly" allele results from the insertion of an antisense EIF2S2 retrogene (called asEIF2S2) into the 3' UTR of the IRF2BP2 gene leading to an abnormal IRF2BP2 transcript. We provide evidence that this chimeric IRF2BP2/asEIF2S2 messenger 1) targets the genuine sense EIF2S2 RNA and 2) creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA. This represents a unique example of a phenotype arising via a RNA-RNA hybrid, itself generated through a retroposition mechanism. Our results bring new insights on the sheep population history thanks to the identification of the molecular origin of an evolutionary phenotypic variation.
© The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.
© The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
Retroposition ; https://omia.org/OMIA001528/9940/
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