Meiotic Chromosome Synapsis and the Synaptonemal Complex: From Mechanistic Insights to Disease Associations

Abstract

The synaptonemal complex (SC) is a highly conserved proteinaceous structure that physically links homologous chromosomes during meiosis, thereby orchestrating chromosome pairing, recombination, and segregation . Recent advances in super-resolution microscopy, cryo-electron microscopy, and multi-omics approaches have substantially deepened our understanding of the SC’s molecular architecture, dynamic assembly–disassembly process, and its pivotal roles in reproductive biology. In this review, we synthesize current knowledge on the structural organization of the SC, elucidate how mutations in SC-associated genes perturb meiosis and contribute to reproductive disorders, and summarize recent progress in methodological innovations that facilitate SC research. We further highlight unresolved questions and propose future research directions, aiming to bridge basic mechanistic insights with potential clinical applications in the diagnosis and management of infertility.