Genetics Selection Evolution

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This article is part of the supplement: Third International Workshop on Major Genes and QTL in Sheep and Goats; 8–11 December 2003, Toulouse, France

Open Access Proceedings

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

Eric Pailhoux1*, Bernard Vigier1, Laurent Schibler2, Edmond P Cribiu2, Corinne Cotinot1 and Daniel Vaiman3

Author Affiliations

1 Laboratoire de biologie du développement et reproduction, Institut national de la recherche agronomique, 78352 Jouy-en-Josas Cedex, France

2 Laboratoire de génétique biochimique et cytogénétique, Institut national de la recherche agronomique, 78352 Jouy-en-Josas Cedex, France

3 Laboratoire de génétique et épigénétique des pathologies placentaires, INSERM-U361, Pavillon Baudelocque, 123 Bd Port-Royal, 75014 Paris, France

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Genetics Selection Evolution 2005, 37(Suppl 1):S55-S64 doi:10.1186/1297-9686-37-S1-S55


The electronic version of this article is the complete one and can be found online at: http://www.gsejournal.org/content/37/S1/S55


Accepted:7 May 2004
Published:15 December 2005

© 2005 INRA, EDP Sciences

Abstract

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.

Keywords:
PIS mutation; goat; gonad differentiation; XX sex-reversal; ovary development

Proceedings

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