The disorder, affects about 1 percent of women and results in infertility due to premature ovarian failure.
The study demonstrates for the first time that mutation in STAG3 gene is the major cause of human fertility disorders as it provokes a loss of function of the protein it encodes.
STAG3 encodes a meiosis-specific subunit of the cohesin ring, the biological process through which, from a diploid somatic cell, a haploid cell or gamete is produced. Cohesins are protein complexes that bind two straps of DNA and are implicated in its repair, replication and recombination, as well as in its chromosomal stability, transcription regulation, stem-cell pluripotency, and cell differentiation.
Alberto M. Pendás, CSIC researcher at the Cancer Research Center (USAL/CSIC), states: "Our work enables us to causally relate mutations in a gene of the cohesin complex with human infertility. It also demonstrates for the first time in humans that POF and azoospermia, a disorder that impedes normal sperm production, are probably the two faces of the same genetic disease".