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

doi: 10.1016/j.jgg.2026.04.024

Yuanyuan Liu^a,
Jun Zhou^b,c

a. Department of Clinical Pathobiology and Immunological Testing, School of Medical Laboratory, Qilu Medical University, Zibo, Shandong 255300, China;
b. Center for Cell Structure and Function, College of Life Sciences, Shandong Normal University, Jinan, Shandong 250014, China;
c. Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin 300071, China

Funds:

This work was supported by the National Key Research &

Development Program of China (2021YFA1101001).

Received Date: 2026-01-29
Accepted Date: 2026-04-29
Rev Recd Date: 2026-04-29

Available Online: 2026-05-07

Abstract

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 neuro-psychiatric 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.
- Cohesin,
- Genetic variants,
- Reproductive disorders,
- Developmental diseases,
- Chromosome segregation

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