Cohesin variants associated with human reproductive and developmental disorders.

Yuanyuan Liu; Jun Zhou

doi:10.1016/j.jgg.2026.04.024

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Cohesin variants associated with human reproductive and developmental disorders.

Yuanyuan Liu·Jun Zhou

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Abstract

The cohesin complex is an evolutionarily conserved multi-subunit protein assembly essential for sister chromatid cohesion, meiotic recombination, DNA double-strand break repair, and transcriptional regulation. Pathogenic variants in its subunits are implicated in a spectrum of reproductive and developmental disorders, including non-obstructive azoospermia, premature ovarian insufficiency, reproductive aging, aneuploidy, Cornelia de Lange syndrome, Roberts syndrome, cancer, and neuropsychiatric disease. Consequently, identifying cohesin mutations is a priority for precision diagnostics and personalized medicine. This review systematically summarizes the cohesin variants linked to these pathologies, exploring their molecular mechanisms and clinical manifestations. A deeper understanding of these variants is crucial not only for deciphering disease etiology but also for guiding the development of targeted diagnostic strategies and therapeutic interventions, ultimately improving patient management and outcomes.

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Humans Cohesins Cell Cycle Proteins Chromosomal Proteins, Non-Histone Female Mutation De Lange Syndrome Ectromelia Developmental Disabilities Craniofacial Abnormalities Hypertelorism Chromosome segregation Cohesin Developmental diseases Genetic variants Reproductive disorders Journal Article Review

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Yuanyuan Liu, Jun Zhou. 2026-05-06. Cohesin variants associated with human reproductive and developmental disorders.. https://doi.org/10.1016/j.jgg.2026.04.024

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