The KMT2 complex protein ASH2L is required for meiotic prophase progression but dispensable for mitosis in differentiated spermatogonia.

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Tác giả: Yao Chen, Tong Hong, Linjun Hou, Fei Lan, Zhen Lin, Qiang Liu, Xiaozhong Peng, Bowen Rong, Xinzhe Tang, Ming-Han Tong, Meixia Wu, Junyi Yan

Ngôn ngữ: eng

Ký hiệu phân loại: 796.019 Psychological principles

Thông tin xuất bản: England : Development (Cambridge, England) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 676296

ASH2L is a core component of KMT2 complexes, crucial for H3K4 trimethylation. However, its role in spermatogenesis remains elusive. Here, we demonstrate an essential role of Ash2l for meiotic prophase but dispensable for mitosis in differentiated spermatogonia. Using a germ cell-specific Ash2l knockout mouse model, we reveal that Ash2l deficiency leads to meiotic arrest and sterility in both sexes. Ash2l-deficient spermatocytes exhibit failures in chromosomal synapsis associated with persistent DMC1 foci and γH2AX, resulting in meiocyte loss due to apoptosis. Conversely, Ash2l-deficient differentiated spermatogonia show normal development. Mechanistically, Ash2l deficiency results in a global loss of H3K4me3 in promoter regions and significantly decreases expression of thousands of genes. Among these are genes involved in epigenetic silencing pathways like H3K9 di-methylation, DNA methylation, and piRNA pathways, which are crucial for transposon repression during meiotic prophase I progression. Supporting this, we observe that Ash2l mutant spermatocytes display ectopic expression of LINE1-ORF1P. Our findings thus reveal the previously unappreciated role of ASH2L-dependent H3K4me3 modification in spermatogenesis and provide clues to the molecular mechanisms in epigenetic disorders underlying male infertility.
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