title: Ontogenesis of female-to-male sex-reversal in XX polled goats.
abstract: The association of polledness and intersexuality in domestic goats (PIS mutation) made them a practical genetic model for studying mammalian female-to-male sex reversal. In this study, gonads from XX sex-reversed goats (PIS-/-) were thoroughly characterized at the molecular and histologic level from the first steps of gonadal differentiation (36 days post coitum [dpc]) to birth. The first histologic signs of gonadal sex reversal were detectable between 36 and 40 dpc (4-5 days later than the XY male) and were mainly characterized by the reduction of the ovarian cortex and the organization of seminiferous cords. As early as 36 dpc, aromatase (CYP19) gene expression was decreased in XX (PIS-/-) gonads, whereas genes normally up-regulated in males, such as SOX9 and AMH, showed an increased expression level from 40 dpc. Thereafter, steroidogenic cell precursors were affected, and at 56 dpc, WNT4 and 3beta-HSD were expressed in a male-specific manner in sex-reversed gonads. Another noticeable feature was a progressive disappearance of germ cells, clearly visible in testicular cords around 70 dpc where 50-75% of germ cells were absent in XX (PIS-/-) gonads. These observations indicated that the causal mutation of PIS acts very early in the sex-determining cascade and affects primarily the supporting cells of the gonad.
authors: Laboratoire de Biologie du Développement et Biotechnologies, INRA-Bâtiment J. Poly, 78350 Jouy en Josas, France. pailhoux@biotec.jouy.inra.fr
authors: Eric
authors: E
authors: Pailhoux
authors: Bernard
authors: B
authors: Vigier
authors: Daniel
authors: D
authors: Vaiman
authors: Nathalie
authors: N
authors: Servel
authors: Stéphane
authors: S
authors: Chaffaux
authors: Edmond P
authors: EP
authors: Cribiu
authors: Corinne
authors: C
authors: Cotinot
mesh_terms: D000818:Animals; D054304:Anti-Mullerian Hormone; D012734:Disorders of Sex Development; D005260:Female; D005835:Genitalia / Q000033:anatomy & histology; D005838:Genotype; D006023:Glycoproteins; D006041:Goats / Q000235:genetics* / Q000502:physiology; D006066:Gonads / Q000166:cytology / Q000502:physiology*; D006131:Growth Inhibitors / Q000378:metabolism; D006801:Humans; D008297:Male; D010641:Phenotype; D012733:Sex Differentiation / Q000502:physiology*; D013735:Testicular Hormones / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone