Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development

Kelly A. Loffler, Alexander N. Combes, Dagmar Wilhelm, Annemiek Beverdam, Jo Bowles, Peter Koopman

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5 Citations (Scopus)


XX sex reversal syndromes not involving Sry provide an opportunity to identify and study genes important for sexual development. The polled intersex syndrome (PIS) in goats, which shares some features with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) in humans, exemplifies such syndromes. BPES is caused by defects in the forkhead transcription factor gene FOXL2, while PIS is caused by a large deletion of goat chromosome 1q43 that affects transcription of the genes Pisrt1 and Foxl2. Pisrt1 is a non-translated gene that has a sexually dimorphic expression pattern in goats. Here, we describe the structure and expression of the mouse Pisrt1 locus, to investigate its likely role in ovarian development more broadly in mammals. This gene showed some sequence similarity, and was found in a similar genomic context, to its goat and human orthologues. Expression analyses indicated that Pisrt1 is transcribed, and its mRNA polyadenylated and exported to the cytoplasm, but no significant open reading frames were found in a 1.5 kb mouse genomic region corresponding to goat Pisrt1. Pisrt1 transcripts were expressed very broadly among tissues of the developing mouse embryo, and at similar levels in male and female gonads at each stage examined, as determined by in situ hybridisation and RT-PCR. This profile of expression suggests that Pisrt1 is unlikely to contribute to sex-specific events during gonadal development in mice and that divergent pathways of ovarian development operate among different mammalian species.

Original languageEnglish
Pages (from-to)286-292
Number of pages7
JournalMolecular Genetics and Metabolism
Issue number1-2
Publication statusPublished - 1 Sep 2005
Externally publishedYes


  • BPES
  • Foxl2
  • Gene expression
  • Non-coding RNA
  • Ovary
  • Pisrt1
  • Polled intersex syndrome
  • XX sex reversal

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