Int J Biol Sci 2022; 18(5):1933-1943. doi:10.7150/ijbs.67843 This issue


Alterations in synaptonemal complex coding genes and human infertility

Fengguo Zhang, Mengfei Liu, Jinmin Gao

Institute of Biomedical Sciences, College of Life Sciences, Key Laboratory of Animal Resistance Biology of Shandong Province, Shandong Normal University, Jinan, Shandong, 250014, China.

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Zhang F, Liu M, Gao J. Alterations in synaptonemal complex coding genes and human infertility. Int J Biol Sci 2022; 18(5):1933-1943. doi:10.7150/ijbs.67843. Available from

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Graphic abstract

About 10% of reproductive-aged couples suffer from infertility. However, the genetic causes of human infertility cases are largely unknown. Meiosis produces haploid gametes for fertilization and errors in meiosis are associated with human infertility in both males and females. Successful meiosis relies on the assembly of the synaptonemal complex (SC) between paired homologous chromosomes during the meiotic prophase. The SC is ultrastructurally and functionally conserved, promoting inter-homologous recombination and crossover formation, thus critical for accurate meiotic chromosome segregation. With whole-genome/exome sequencing and mouse models, a list of mutations in SC coding genes has been linked to human infertility. Here we summarize those findings. We also analyzed SC gene variants present in the general population and presented complex interaction networks associated with SC components. Whether a combination of genetic variations and environmental factors causes human infertility demands further investigations.

Keywords: Meiosis, synaptonemal complex, premature ovarian insufficiency, non-obstructive azoospermia, infertility