Mayorek Nina, Schlossberg Miriam, Mansour Yousef, Pillar Nir, Stein Ilan, Mushasha Fatima, Baziza Paz Guy, Medvedev Eleonora, Manevitch Zakhariya, Menzel Julia, Aizenshtein Elina, Sarvin Boris, Sarvin Nikita, Goldberg Erwin, Niedenberger Bryan A, Geyer Christopher B, Shlomi Tomer, Klutstein Michael, Pikarsky Eli
The Concern Foundation Laboratories at The Lautenberg Center for Immunology and Cancer Research, Israel-Canada Medical Research Institute, Faculty of Medicine, The Hebrew University, Jerusalem, Israel.
Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
PLoS Genet. 2025 Jul 10;21(7):e1011785. doi: 10.1371/journal.pgen.1011785. eCollection 2025 Jul.
Germ cell differentiation in the male testis involves extensive phenotypic, transcriptional, and epigenetic modifications, which are essential for producing functional spermatozoa. Among all organs, the testis exhibits the highest baseline physiological levels of L-2-hydroxyglutarate (L-2HG), yet its role in male germ cell development remains unknown. Here, we reveal that L-2HG is synthesized during the pachytene and diplotene stages of meiosis by the testis-specific enzyme lactate dehydrogenase C (LDHC). Surprisingly, LDHC translocates into the nucleus, localizing along the synaptonemal complex and at centromeres. L-2HG, produced by LDHC, regulates centromere condensation and heterochromatin organization via multiple mechanisms, including chromocenter clustering, centromere and chromocenter condensation, and modulation of satellite RNA expression. These effects are rapid, specific to L-2HG, and independent of histone methylation changes. Acute depletion of L-2HG in vivo results in centromere dysfunction and activation of the spindle assembly checkpoint (SAC), suggesting the possible role of this metabolite in ensuring proper chromosome segregation.
雄性睾丸中的生殖细胞分化涉及广泛的表型、转录和表观遗传修饰,这些修饰对于产生功能性精子至关重要。在所有器官中,睾丸中L-2-羟基戊二酸(L-2HG)的基础生理水平最高,但其在雄性生殖细胞发育中的作用尚不清楚。在此,我们揭示L-2HG是在减数分裂的粗线期和双线期由睾丸特异性酶乳酸脱氢酶C(LDHC)合成的。令人惊讶的是,LDHC易位进入细胞核,定位于联会复合体和着丝粒。由LDHC产生的L-2HG通过多种机制调节着丝粒凝聚和异染色质组织,包括染色中心聚集、着丝粒和染色中心凝聚以及卫星RNA表达的调节。这些效应迅速,对L-2HG具有特异性,且独立于组蛋白甲基化变化。体内急性消耗L-2HG会导致着丝粒功能障碍和纺锤体组装检查点(SAC)的激活,表明这种代谢物在确保正确的染色体分离中可能发挥的作用。