La Trobe
146446_Deveson,I_2017.pdf (715.5 kB)

Differential intron retention in Jumonji chromatin modifier genes is implicated in reptile temperature-dependent sex determination

Download (715.5 kB)
journal contribution
posted on 2023-04-18, 06:21 authored by Ira W Deveson, Clare E Holleley, James Blackburn, Jennifer GravesJennifer Graves, John S Mattick, Paul D Waters, Arthur Georges

In many vertebrates, sex of offspring is determined by external environmental cues rather than by sex chromosomes. In reptiles, for instance, temperature-dependent sex determination (TSD) is common. Despite decades of work, the mechanism by which temperature is converted into a sex-determining signal remains mysterious. This is partly because it is difficult to distinguish the primary molecular events of TSD from the confounding downstream signatures of sexual differentiation. We use the Australian central bearded dragon, in which chromosomal sex determination is overridden at high temperatures to produce sex-reversed female offspring, as a unique model to identify TSD-specific features of the transcriptome. We show that an intron is retained in mature transcripts from each of two Jumonji family genes, JARID2 and JMJD3, in female dragons that have been sex-reversed by temperature but not in normal chromosomal females or males. JARID2 is a component of the master chromatin modifier Polycomb Repressive Complex 2, and the mammalian sex-determining factor SRY is directly regulated by an independent but closely related Jumonji family member. We propose that the perturbation of JARID2/JMJD3 function by intron retention alters the epigenetic landscape to override chromosomal sex-determining cues, triggering sex reversal at extreme temperatures. Sex reversal may then facilitate a transition from genetic sex determination to TSD, with JARID2/JMJD3 intron retention preserved as the decisive regulatory signal. Significantly, we also observe sex-associated differential retention of the equivalent introns in JARID2/JMJD3 transcripts expressed in embryonic gonads from TSD alligators and turtles, indicative of a reptile-wide mechanism controlling TSD.


I.W.D. is supported by an Australian Postgraduate Award. Project funding was from Australian Research Council Discovery Grants DP110104377 and DP170101147 led by A.G.


Publication Date



Science Advances





Article Number



8p. (p. 1-8)


American Association for the Advancement of Science



Rights Statement

© 2017 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).

Usage metrics

    Journal Articles


    No categories selected