Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats.
Sex Dev
; 2(3): 142-51, 2008.
Article
em En
| MEDLINE
| ID: mdl-18769074
ABSTRACT
The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads to two hypotheses, either FOXL2 is responsible for XX sex-reversal in goat assuming distinct functions of its protein during ovarian differentiation in different mammals, or other PIS-regulated genes are involved. To assess the second possibility, PISRT1 expression was constitutively restored in XX PIS(-/-) gonads. Six transgenic fetuses were obtained by nuclear transfer and studied at 2 developmental stages, 41 and 46 days post-reconstruction. The gonads of these fetuses appear phenotypically identical to those of cloned non-transgenic controls. Conclusively, this result argues for FOXL2 being responsible for the PIS gonad-associated phenotype. Its invalidation in goat will help to better understand this complex syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
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Cromossomo X
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Cabras
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Processos de Determinação Sexual
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Proteínas de Ligação a DNA
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article