研究人员表示，哺乳动物的Y染色体对雄性生育力至关重要，但哪些Y基因调控精子发生仍未明了。
研究人员通过生成13种Y缺失小鼠模型来解决这一问题。在Eif2s3y、Uty和Zfy2缺失小鼠中，精子发生受到了损害。研究人员发现，Uty调控精原细胞的增殖，揭示了Zfy2在促进减数分裂性别染色体配对中的作用，并发现Y基因对体细胞睾丸转录组的意外影响。在其余的单一Y基因缺失小鼠中，精子发生似乎未受干扰，但睾丸转录仍然发生了变化。多基因缺失模型，包括人类不育AZFa模型，展示了单一Y基因缺失小鼠中不存在的表型。
因此，Y基因即使在单独删除时没有表现出表型，也可能调控精子发生。该研究推动了人们对Y染色体演化和不育的理解，并提供了一个资源，可以用于解析Y基因在其他组织中的功能。
附：英文原文
Title: Systematic identification of Y-chromosome gene functions in mouse spermatogenesis
Author: Jeremie Subrini, Wazeer Varsally, Irina Balaguer Balsells, Maike Bensberg, Georgios Sioutas, Obah Ojarikre, Valdone Maciulyte, Bjrn Gylemo, Katharine Crawley, Katherine Courtis, Dirk G. de Rooij, James M. A. Turner
Issue&Volume: 2025-01-24
Abstract: The mammalian Y chromosome is essential for male fertility, but which Y genes regulate spermatogenesis is unresolved. We addressed this by generating 13 Y-deletant mouse models. In Eif2s3y, Uty, and Zfy2 deletants, spermatogenesis was impaired. We found that Uty regulates spermatogonial proliferation, revealed a role for Zfy2 in promoting meiotic sex chromosome pairing, and uncovered unexpected effects of Y genes on the somatic testis transcriptome. In the remaining single Y-gene deletants, spermatogenesis appeared unperturbed, but testis transcription was still altered. Multigene deletions, including a human-infertility AZFa model, exhibited phenotypes absent in single Y deletants. Thus, Y genes may regulate spermatogenesis even if they show no phenotypes when deleted individually. This study advances our knowledge of Y evolution and infertility and provides a resource to dissect Y-gene functions in other tissues.
DOI: ads6495
Source: https://www.science.org/doi/10.1126/science.ads6495