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Updated: Jan 20, 2026
Evaluation of Fertilization State by Tracing Sperm Nuclear Morphology in Arabidopsis Double Fertilization
Published on: August 29, 2019
Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization
Jing Dai1,2,3, Can Dai2,3,4, Jing Guo2,3,4
1Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Abstract:
Total fertilization failure (TFF), which is the failure of fertilization in all oocytes, occurs in 1%-3% of intracytoplasmic sperm injection (ICSI) cycles. However, the sperm-related factors that cause fertilization failure in humans are still largely unknown. Here, we identified three novel homozygous variations in the PLCZ1 gene in a recessive inheritance pattern in three consanguineous families, which all located in a key catalytic domain, and predicted to modify its secondary structure and thus impair its hydrolytic activity. Moreover, immunofluorescent staining revealed that PLCζ in mutant sperm exhibited abnormal localization patterns. ICSI-AOA resulted in an increased rate of normal fertilization compared with previous ICSI cycles (75.0% vs 2.2%, P < .001). In summary, we identified three novel homozygous variations in PLCZ1 that led to poor or failed fertilization that could be overcame by ICSI-AOA.
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