Recent studies have identified mutations in meiotic recombination-related genes associated with human subfertility or infertility. These mutations often lead to aberrant splicing of genes such as MEIOB, C14ORF39/SIX6OS1, STAG3, and SYCE1. Understanding the mechanism of alternative splicing (AS) in human reproduction is crucial for improving clinical diagnosis.
While it is known that testes have a high number of alternative splicing events, the specific mechanisms by which alternative splicing functions in homologous pairing and synapsis are still unclear. A groundbreaking study published in Science Bulletin and led by Dr. Jiali Liu from the State Key Laboratory of Animal Biotech Breeding at China Agricultural University reveals the critical role of SRSF1 in male meiosis through alternative splicing during homologous pairing and synapsis in mice.
Previous research by the team has shown that SRSF1 deficiency impairs primordial follicle formation and leads to primary ovarian insufficiency. However, the precise mechanisms by which SRSF1 regulates pre-mRNA splicing during homologous pairing and synapsis in mouse spermatogenesis were unknown until now.
This study unveils the vital role of an SRSF1-mediated post-transcriptional regulatory mechanism in the process of homologous pairing and synapsis during meiotic prophase I, providing valuable insights into the molecular mechanisms underlying the post-transcriptional network of male meiosis.
Conditional knockout of Srsf1 in mouse germ cells disrupted homologous pairing and synapsis, resulting in non-obstructive azoospermia. SRSF1 was found to be essential for initial homology recognition, telomere-led chromosome movement, and synaptonemal complex assembly. Additionally, SRSF1 interacted with TRA2B and U2AF2, directly binding and regulating the expression of Dmc1, Sycp1, Sun1, and Majin through alternative splicing, which facilitated homologous pairing and synapsis during the meiotic prophase I program.
This study demonstrates the indispensable role of SRSF1-mediated post-transcriptional regulation in homologous pairing and synapsis during the meiotic prophase I program. The discovery of alternative splicing of genes related to non-obstructive azoospermia in a mouse model provides valuable insights for diagnosing human reproduction issues.
More information:
Longjie Sun et al, SRSF1 is crucial for male meiosis through alternative splicing during homologous pairing and synapsis in mice, Science Bulletin (2023). DOI: 10.1016/j.scib.2023.04.030
Citation:
Scientists identify gene crucial for male meiosis during homologous pairing and synapsis (2023, June 30)
retrieved 30 June 2023
from https://phys.org/news/2023-06-scientists-gene-crucial-male-meiosis.html
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