Buscara Laurine, Montazer-Torbati Fatemeh, Chadi Sead, Auguste Aurélie, Laubier Johann, Chassot Anne-Amandine, Renault Lauriane, Passet Bruno, Costa José, Pannetier Maëlle, Vilotte Marthe, Chaboissier Marie-Christine, Vilotte Jean-Luc, Pailhoux Eric, Le Provost Fabienne
UR339, Laboratoire de Génétique Biochimique et de Cytogénétique, Institut National de la Recherche Agronomique, 78350, Jouy-en-Josas, France.
Transgenic Res. 2009 Aug;18(4):649-54. doi: 10.1007/s11248-009-9247-2. Epub 2009 Jan 30.
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.
RSPO1是一个新发现的参与性别分化的基因。将两个包含RSPO1基因（gRSPO1）的山羊BAC克隆注射到小鼠卵母细胞中，并获得了几个转基因品系。两个克隆均诱导gRSPO1在包括雄性和雌性性腺在内的各种组织中过表达，没有明显的表型且性别比例正常。将gRSPO1转基因导入小鼠RSPO1基因敲除基因型中，恢复了生育能力，雌性小鼠性腺的雄性化特征消失，这证明了山羊蛋白在小鼠体内的功能。相反，在mSRY或gSRY-XX基因型中gRSPO1的过表达并不干扰SRY诱导的雄性表型。
