Candidate genes for infertility: an in-silico study based on cytogenetic analysis

Area of Science:

• Genetics
• Reproductive Biology
• Bioinformatics

Background:

• Infertility affects many couples, with genetic factors like chromosomal aberrations being significant causes.
• Structural chromosomal aberrations can disrupt genes crucial for reproductive function.
• Identifying these genetic disruptions is vital for understanding and potentially treating infertility.

Purpose of the Study:

• To identify candidate genes and functional networks involved in male and female infertility.
• To analyze cytogenetic data from infertile patients to pinpoint genetic causes.
• To explore the role of structural chromosomal aberrations in reproductive health.

Main Methods:

• Karyotypic analysis of 201 infertile patients and 201 healthy controls.
• Peripheral blood lymphocyte culturing and GTG banding.
• Bioinformatic analysis using Cytoscape and Metascape to identify gene networks.

Main Results:

• Specific chromosomal regions (e.g., 5q2, 17q2 in males; 6q2, 16q2, Xq2 in females) showed higher aberration frequencies in infertile individuals.
• Distinct male and female gene networks were identified, with top enriched GO terms being 'skeletal system morphogenesis' and 'mRNA transport', respectively.
• Key hub genes like PSME3, PSMD3, CDC27 (male) and UPF3B, IRF8, PSMB1 (female) were identified, with some being proteasome complex components.

Conclusions:

• Candidate genes and networks implicated in male and female infertility were identified.
• These findings provide potential targets for future research into the genetic basis of infertility.
• Further validation of identified hub genes in human and animal models is warranted.