ArticlePloS one2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 16 citations in OpenAlex.
- Chromatin-Based Control of Mammalian Sex Determination: Integrating Epigenetic and Metabolic Mechanisms.Advances in experimental medicine and biology · 2026Review
- Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.International journal of molecular sciences · 2025Article
- HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.JIMD reports · 2025Article
- Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.International journal of molecular sciences · 2025Article
- Colonic ketogenesis, a microbiota-regulated process, contributes to blood ketones and protects against colitis in mice.The Biochemical journal · 2024Article
- Partial male-to-female reprogramming of mouse fetal testis by Sertoli cell ablation.Development (Cambridge, England) · 2023Article
- Regulation of adult stem cell function by ketone bodies.Frontiers in cell and developmental biology · 2023Review
- The neonatal ketone body is important for primordial follicle pool formation and regulates ovarian ageing in mice.Life metabolism · 2022Article
- Gene expression and functional abnormalities in XX/Sry Leydig cells.Scientific reports · 2021Article
- Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.Frontiers in genetics · 2021Article
- Two distinct pathways of pregranulosa cell differentiation support follicle formation in the mouse ovary.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
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20 authors at 10 institutions in 7 countries.
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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 Hmgcs2 is important for gonad development in mammals, we pursued two lines of investigations. Firstly, we generated Hmgcs2-null mice using CRISPR/Cas9 and found that these mice had gonads that developed normally even on a sensitized background. Secondly, we screened 46,XY DSD patients with gonadal dysgenesis and identified two unrelated patients with a deletion and a deleterious missense variant in HMGCS2 respectively. However, both variants were heterozygous, suggesting that HMGCS2 might not be the causative gene. Analysis of a larger number of patients in the future might shed more light into the possible association of HMGCS2 with human gonadal development.
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