Link Between Missing Y Chromosome Gene and Male Infertility Uncovered

Recent research conducted by scientists at the University of Hawaiʻi at Mānoa has established a direct connection between the absence of a specific Y chromosome gene and male infertility. The study focused on the Zfy gene, present on the Y chromosome in both humans and mice, which plays a crucial role in sperm development and overall male reproductive health. Using advanced CRISPR gene-editing technology, researchers created mouse models missing one or both versions of Zfy (Zfy1 and Zfy2). Mice lacking both genes, known as double knockouts, were found to be completely infertile, producing severely abnormal or no sperm at all.

The investigation revealed that the absence of Zfy led to significant disruptions in gene regulation, affecting hundreds of genes vital for sperm formation, DNA packaging, and cell survival. This resulted in early death of sperm precursor cells and the production of fragile, improperly condensed sperm DNA. These findings offer new insights into the genetic mechanisms underlying male infertility and may pave the way for novel diagnostic and therapeutic approaches.

Led by Monika Ward and involving contributions from students and international colleagues, the study also utilized assisted reproductive techniques, such as intracytoplasmic sperm injection (ICSI) and round spermatid injection (ROSI), to explore the molecular impact of Zfy loss. The research emphasizes the importance of the Zfy gene in maintaining the health of male germ cells and highlights the extensive genetic cascades involved in spermatogenesis.

This groundbreaking work advances our understanding of reproductive genetics and could have important implications for diagnosing and treating male infertility caused by Y chromosome abnormalities.

For more details, the full study can be accessed at Source.