title: Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral Hairy Species from Modern Woolly Sheep.
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.
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Demars
authors.affiliation: Instituto de Genetica, INTA, Buenos Aires, Argentina.
authors.forename: Margarita
authors.initials: M
authors.lastname: Cano
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Drouilhet
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Plisson-Petit
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.|SIGENAE, INRA, Castanet-Tolosan, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Bardou
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Fabre
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Servin
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Sarry
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Florent
authors.initials: F
authors.lastname: Woloszyn
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Mulsant
authors.affiliation: Domaine Expérimental de La Fage INRA, Roquefort sur Soulzon, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Foulquier
authors.affiliation: Domaine Expérimental de La Fage INRA, Roquefort sur Soulzon, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Carrière
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.|Domaine Expérimental de Langlade INRA, Pompertuzat, France.
authors.forename: Mathias
authors.initials: M
authors.lastname: Aletru
authors.affiliation: CNRGV INRA, Castanet-Tolosan, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rodde
authors.affiliation: CNRGV INRA, Castanet-Tolosan, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Cauet
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.|Get-Plage INRA, Castanet-Tolosan, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Bouchez
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.|Get-Plage INRA, Castanet-Tolosan, France.
authors.forename: Maarten
authors.initials: M
authors.lastname: Pirson
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Gwenola
authors.initials: G
authors.lastname: Tosser-Klopp
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Castanet-Tolosan, France.
authors.forename: Daniel
authors.initials: D
authors.lastname: Allain
mesh_terms: D000818:Animals; D005075:Biological Evolution; D002352:Carrier Proteins / Q000235:genetics; D000072441:DNA, Ancient; D014644:Genetic Variation / Q000235:genetics; D016678:Genome; D055106:Genome-Wide Association Study / Q000379:methods; D009154:Mutation; D010641:Phenotype; D012756:Sheep / Q000235:genetics*; D034561:Sheep, Domestic / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014935:Wool
chemical_list: D002352:Carrier Proteins; D000072441:DNA, Ancient; D014157:Transcription Factors