Molecular analysis of 60,XX pseudohermaphrodite polled goats for the presence of SRY and ZFY genes

Pailhoux, Eric; Cribiu, Edmond; Chaffaux, Stéphane; Darré, Roland; Fellous, M; Cotinot, Corinne

doi:10.1530/jrf.0.1000491

Cited by 40 publications

(29 citation statements)

References 15 publications

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“…The Polled/intersex syndrome (PIS) in goats is a perfect example of this case. Two genes (Pisrti and Foxl2) have been linked to PIS and one of these genes Foxl2, a forkhead transcription factor, emerges as a potential candidate for the "Z" gene (Pailhoux et al, 1994(Pailhoux et al, , 2001(Pailhoux et al, , 2002(Pailhoux et al, , 2003Vaiman et al, 1999;Nikic and Vaiman, 2004;Pannetier et al, 2003).…”

Section: Ovary-determining Gene Versus the Z Theorymentioning

confidence: 99%

The pathway to femaleness: current knowledge on embryonic development of the ovary

Yao

2005

Molecular and Cellular Endocrinology

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Increasing evidence indicates that organogenesis of the ovary is not a passive process arising by default in the absence of the testis pathway. A coordinated interaction is actually in force between somatic cells and female germ cells in embryonic ovaries, thus creating a unique microenvironment that facilitates the formation of follicles. Identification of the functional roles of several novel regulatory elements such as Figα, Foxl2, follistatin, and Wnt4 reveals the complexity of early ovarian organization. Challenges await us to establish the molecular connections of these molecules as well as to discover new candidates in the pathway of early ovarian development.

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Section: Ovary-determining Gene Versus the Z Theorymentioning

confidence: 99%

The pathway to femaleness: current knowledge on embryonic development of the ovary

Yao

2005

Molecular and Cellular Endocrinology

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“…In parallel with this classic scheme, exceptions exist where XX individuals develop testes in the absence of SRY while, inversely XY individuals without testes but with an intact SRY gene have been described. Such individuals have been observed in numerous mammalian species, including humans, and are called sex-reversed or intersexes (isx) (Gerneke, 1967;Whitworth et al, 1996;Pailhoux et al, 1994a;Meyers-Wallen et al, 1999;Buoen et al, 2000;Sarafoglou and Ostrer, 2000). In most cases, they are carriers of genetic anomalies in one or several autosomal or X-linked genes.…”

Section: Introductionmentioning

confidence: 99%

Time course of female‐to‐male sex reversal in 38,XX fetal and postnatal pigs

Pailhoux

Parma

Sundström

et al. 2001

Developmental Dynamics

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In an attempt to understand the etiology of intersexuality in pigs, we thoroughly analyzed the gonads of 38,XX (SRY negative) female to male sex-reversed animals at different developmental stages: during fetal life [50 and 70 days postcoitum (dpc)], just after birth [35 days postpartum (dpp)] and during adulthood. For each animal studied, we performed parallel histological and ultrastructural analyses on one gonad and RT-PCR analysis on the other gonad in order to define the expression profiles of sexually regulated genes: SOX9, 3␤-HSD, P450 aromatase, AMH, FOXL2, and Wnt4. Light and electron microscopic examination showed that testicular cords differentiated in XX sex-reversed gonads but were hypoplastic. Although the testicular cords contained gonia at the fetal stages, the germ cells had all died through apoptosis within a few weeks after birth. Ultrastructurally normal Leydig cells also differentiated, but later, and enclosed whorl-like residual bodies. At the fetal stages, three of the six genes studied in the intersex gonads presented, as early as 50 dpc, a modified expression profile corresponding to an elevated expression of SOX9 and the beginning of AMH and P450 aromatase gene transcription. In addition to genes involved in the testicular pathway, the same gonads expressed FOXL2, an ovarian-specific factor. The ovaries of true hermaphrodites were ineffective in ensuring correct folliculogenesis and presented abnormal expression profiles of ovarian specific genes after birth. These results indicate that the genes involved in this pathology act very early during gonadogenesis and affect the ovary-differentiating pathway with variable expressivity from ovarian germ cell depletion through to trans-differentiation into testicular structures.

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“…With this kind of a negative result one is always in good company with colleagues working on female pseudohermaphroditism as has been described for the "polled" goats (Soller et al, 1969;Just et al, 1994;Pailhoux et al, 1994) or with people working on Tokudaia osimensis. As a consequence of negative results, additional genes have to be considered that may have gained a testis-determining function.…”

mentioning

confidence: 97%

The sex determination in <i>Ellobius lutescens</i> remains bizarre

Just¹,

Baumstark²,

Hameister³

et al. 2002

Cytogenet Genome Res

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Mammalian sex determination and gonad differentiation are the result of a complex interaction of fine-tuned spatial and temporal gene expression with threshold levels of individual genes. The male pathway is initiated by SRY. Some exceptional mammals determine male sex without the SRY gene and even without a Y chromosome. Ellobius lutescens in this report is one example of this “weird” species. We provide key data on the genomic level that there are no coarse differences in the genomes of male and female animals by comparative genomic hybridization. On the gene level we studied the gene Nr5a1 for the orphan nuclear receptor, steroidogenic factor SF-1, a central constituent for gonad differentiation and adrenal gland development. The Ellobius lutescens Nr5a1 gene was mapped to the proximal short arm of chromosome 2 by fluorescence in situ hybridization. In addition, we provide evidence by linkage analysis in two E. lutescens pedigrees that Nr5a1 is not the key male sex-determining gene in Ellobius lutescens.

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Molecular analysis of 60,XX pseudohermaphrodite polled goats for the presence of SRY and ZFY genes

Cited by 40 publications

References 15 publications

The pathway to femaleness: current knowledge on embryonic development of the ovary

The pathway to femaleness: current knowledge on embryonic development of the ovary

Time course of female‐to‐male sex reversal in 38,XX fetal and postnatal pigs

The sex determination in <i>Ellobius lutescens</i> remains bizarre

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