Journal article

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

PLoS One | Public Library Science | Published : 2020

Abstract

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylglutaryl coenzyme A synthase 2 (HMGCS2), encoding a metabolic enzyme in the liver important for energy production from fatty acids, that shows an unusual expression pattern in developing fetal mouse gonads. Shortly after gonadal sex determination it is up-regulated in the developing testes following a very similar spatial and temporal pattern as the male-determining gene Sry in Sertoli cells before switching to ovarian enriched expression. To test if ..

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Grants

Awarded by Australian Research Council Future Fellowship


Awarded by Australian Research Council


Awarded by National Health & Medical Research Council program grant


Awarded by Riset Unggulan Univeritas Diponegoro [PNBP]


Awarded by Swiss National Science Foundation


Awarded by Diputacion General de Aragon


Funding Acknowledgements

This work was supported by an Australian Research Council Future Fellowship [FT110100327] and an Australian Research Council discovery grant [DP170100045] to DW, a National Health & Medical Research Council program grant [APP1074258] to AS, as well as partly funded by Riset Unggulan Univeritas Diponegoro [PNBP no 316-01/UN7.5.1/PG/2015] to SF, the Swiss National Science Foundation [joint research project SCOPES IZ73Z0_152347/1] to SN and JJ and the Diputacion General de Aragon [Grupo B32_17R] and European Social Fund [FEDER] to BP and JP. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.