High-throughput sequencing analyses of XX genital ridges lacking FOXL2 reveal DMRT1 up-regulation before SOX9 expression during the sex-reversal process in goats

Biol Reprod. 2014 Dec;91(6):153. doi: 10.1095/biolreprod.114.122796. Epub 2014 Nov 13.

Abstract

FOXL2 loss of function in goats leads to the early transdifferentiation of ovaries into testes, then to the full sex reversal of XX homozygous mutants. By contrast, Foxl2 loss of function in mice induces an arrest of follicle formation after birth, followed by complete female sterility. In order to understand the molecular role of FOXL2 during ovarian differentiation in the goat species, putative FOXL2 target genes were determined at the earliest stage of gonadal sex-specific differentiation by comparing the mRNA profiles of XX gonads expressing the FOXL2 protein or not. Of these 163 deregulated genes, around two-thirds corresponded to testicular genes that were up-regulated when FOXL2 was absent, and only 19 represented female-associated genes, down-regulated in the absence of FOXL2. FOXL2 should therefore be viewed as an antitestis gene rather than as a female-promoting gene. In particular, the key testis-determining gene DMRT1 was found to be up-regulated ahead of SOX9, thus suggesting in goats that SOX9 primary up-regulation may require DMRT1. Overall, our results equated to FOXL2 being an antitestis gene, allowing us to propose an alternative model for the sex-determination process in goats that differs slightly from that demonstrated in mice.

Keywords: DMRT1; FOXL2; RNA sequencing; XX sex reversal; comparative genetics; goat; sex-determination.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 46, XX Testicular Disorders of Sex Development / genetics*
  • 46, XX Testicular Disorders of Sex Development / veterinary
  • Animals
  • Animals, Genetically Modified
  • Cell Transdifferentiation
  • Embryo, Mammalian
  • Female
  • Forkhead Transcription Factors / genetics*
  • Gene Expression Regulation, Developmental
  • Genitalia, Female / embryology
  • Genitalia, Female / metabolism*
  • Goats / genetics
  • Goats / physiology*
  • High-Throughput Nucleotide Sequencing
  • Male
  • Ovary / metabolism
  • SOX9 Transcription Factor / genetics*
  • Sex Determination Processes / genetics
  • Testis / metabolism
  • Transcription Factors / genetics*
  • Up-Regulation

Substances

  • DMRT1 protein
  • Forkhead Transcription Factors
  • SOX9 Transcription Factor
  • Transcription Factors