• PMID: 10678170
• Gene Name: SYCP3
• Condition: Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility

Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B, Höög C.

During meiosis, the homologous chromosomes pair and recombine. An evolutionarily conserved protein structure, the synaptonemal complex (SC), is located along the paired meiotic chromosomes. We have studied the function of a structural component in the axial/lateral element of the SC, the synaptonemal complex protein 3 (SCP3). A null mutation in the SCP3 gene was generated, and we noted that homozygous mutant males were sterile due to massive apoptotic cell death during meiotic prophase. The SCP3-deficient male mice failed to form axial/lateral elements and SCs, and the chromosomes in the mutant spermatocytes did not synapse. While the absence of SCP3 affected the nuclear distribution of DNA repair and recombination proteins (Rad51 and RPA), as well as synaptonemal complex protein 1 (SCP1), a residual chromatin organization remained in the mutant meiotic cells. FAU - Yuan, L AU - Yuan L AD - Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden. FAU - Liu, J G AU - Liu JG FAU - Zhao, J AU - Zhao J FAU - Brundell, E AU - Brundell E FAU - Daneholt, B AU - Daneholt B