title: Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.
abstract: RSPO1 is a newly discovered gene involved in sex differentiation. Two goat BAC clones encompassing the RSPO1 gene (gRSPO1) were injected into mouse oocytes and several transgenic lines derived. Both clones induced gRSPO1 over-expression in various tissues, including male and female gonads, with no obvious phenotype and normal sex-ratios. Introgression of the gRSPO1 transgene into a mouse RSPO1 knockout genotype resulted in the rescue of the fertility and the disappearance of the masculinized gonadic features of the females, demonstrating the functionality of the goat protein in a mouse context. On the contrary, over-expression of gRSPO1 within a mSRY or a gSRY-XX genotypes did not interfere with the SRY-induced male phenotype.
authors.affiliation: UR339, Laboratoire de Génétique Biochimique et de Cytogénétique, Institut National de la Recherche Agronomique, 78350, Jouy-en-Josas, France.
authors.forename: Laurine
authors.initials: L
authors.lastname: Buscara
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Montazer-Torbati
authors.forename: Sead
authors.initials: S
authors.lastname: Chadi
authors.forename: Aurélie
authors.initials: A
authors.lastname: Auguste
authors.forename: Johann
authors.initials: J
authors.lastname: Laubier
authors.forename: Anne-Amandine
authors.initials: AA
authors.lastname: Chassot
authors.forename: Lauriane
authors.initials: L
authors.lastname: Renault
authors.forename: Bruno
authors.initials: B
authors.lastname: Passet
authors.forename: José
authors.initials: J
authors.lastname: Costa
authors.forename: Maëlle
authors.initials: M
authors.lastname: Pannetier
authors.forename: Marthe
authors.initials: M
authors.lastname: Vilotte
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Chaboissier
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Vilotte
authors.forename: Eric
authors.initials: E
authors.lastname: Pailhoux
authors.forename: Fabienne
authors.initials: F
authors.lastname: Le Provost
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D002454:Cell Differentiation / Q000235:genetics; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D012734:Disorders of Sex Development; D005260:Female; D005298:Fertility / Q000235:genetics; D006041:Goats / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D055748:SOXB1 Transcription Factors / Q000235:genetics / Q000378:metabolism; D013737:Testis / Q000166:cytology / Q000254:growth & development*; D019699:Thrombospondins / Q000235:genetics / Q000502:physiology*; D019076:Transgenes; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
chemical_list: C518903:RSPO1 protein, mouse; D055748:SOXB1 Transcription Factors; D019699:Thrombospondins