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Article Dans Une Revue Genetics Selection Evolution Année : 2005

Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation

Eric Pailhoux
Bernard Vigier
  • Fonction : Auteur
Laurent Schibler
Edmond P. Cribiu
  • Fonction : Auteur
Corinne Cotinot
Daniel Vaiman
  • Fonction : Auteur

Résumé

In goats, the PIS (polled intersex syndrome) mutation is responsible for both the absence of horns in males and females and sex-reversal affecting exclusively XX individuals. The mode of inheritance is dominant for the polled trait and recessive for sex-reversal. In XX PIS$^{-/-}$ mutants, the expression of testis-specific genes is observed very precociously during gonad development. Nevertheless, a delay of 4-5 days is observed in comparison with normal testis differentiation in XY males. By positional cloning, we demonstrate that the PIS mutation is an 11.7-kb regulatory-deletion affecting the expression of two genes, PISRT1 and FOXL2 which could act synergistically to promote ovarian differentiation. The transcriptional extinction of these two genes leads, very early, to testis-formation in XX homozygous PIS$^{-/-}$ mutants. According to their expression profiles and bibliographic data, we propose that FOXL2 may be an ovary-differentiating gene, and the non-coding RNA PISRT1, an anti-testis factor repressing SOX9, a key regulator of testis differentiation. Under this hypothesis, SRY, the testis-determining factor would inhibit these two genes in the gonads of XY males, to ensure testis differentiation.
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hal-00894489 , version 1 (11-05-2020)

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  • HAL Id : hal-00894489 , version 1

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Eric Pailhoux, Bernard Vigier, Laurent Schibler, Edmond P. Cribiu, Corinne Cotinot, et al.. Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation. Genetics Selection Evolution, 2005, 37 (Suppl. 1), pp.S55-S64. ⟨hal-00894489⟩
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