Publication eLife, Dujardin E. & al.

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Publication eLife, Dujardin E. & al.

DMRT1, a key player in male sex determination and female fertility in rabbits

In an article published in eLife, researchers from the Laboratory of Reproductive Biology, Environment, Epigenetics and Development - BREED (UMR 1198 INRAE/UPSaclay, Jouy-en-Josas) demonstrate, for the first time in a mammal, the involvement of the transcription factor DMRT1 in sex determination and gonad differentiation.

Indeed, although DMRT1 is the testis-determining factor in many vertebrates, including birds, this role does not appear to be conserved in mammals, in which the SRY gene is the determinant of male sex. Furthermore, no role for Dmrt1 in fetal testicular differentiation has been identified in mice, suggesting a break in the role of this gene in the evolutionary continuum. However, in humans, various mutations affecting DMRT1 are associated with disorders of testicular differentiation.

To clarify the role of DMRT1, BREED researchers used a non-rodent animal model, the rabbit, for functional genomics studies. Their results show that the absence of DMRT1 induces male-to-female sex reversal, as XY DMRT1-/- rabbits develop ovaries early in gonadal differentiation. They also show that DMRT1 is essential for germ cell meiosis in females, and XX DMRT1-/- rabbits are sterile in adulthood.

Taken together, these rabbit data show that several roles for DMRT1 have been conserved throughout evolution, notably between birds and non-rodent mammals.

  • Contact : eric.pailhoux@inrae.fr

See also

Reference 

Emilie Dujardin, Marjolaine André, Aurélie Dewaele, Béatrice Mandon-Pépin, Francis Poulat, Anne Frambourg, Dominique Thépot, Luc Jouneau, Geneviève Jolivet, Eric Pailhoux,Maëlle Pannetier.  (2023) DMRT1 is a testis-determining gene in rabbits and is also essential for female fertility eLife 12:RP89284.
https://doi.org/10.7554/eLife.89284.3 

Modification date : 27 November 2023 | Publication date : 27 November 2023 | Redactor : PH