Conserved genes regulating human sex differentiation, gametogenesis and fertilization

Area of Science:

• Reproductive biology and genetics
• Genomics and bioinformatics
• Comparative genomics

Background:

• Infertility affects couples' ability to achieve healthy pregnancies.
• Functional genomics in mice and humans elucidates conserved reproductive mechanisms.
• Monogenic fertility disorders have complex genetic etiologies.

Purpose of the Study:

• To identify and characterize genes regulating conserved reproductive functions.
• To investigate genes with comparable fertility phenotypes in rodents and humans.
• To highlight novel genetic causes of infertility and associated model systems.

Main Methods:

• Comparative analysis of functional genomes in mice and humans.
• Next-generation sequencing and CRISPR/Cas-mediated genome editing.
• Functional characterization of loss-of-function mutations in animal models.

Main Results:

• Established genes regulating conserved reproductive processes (sex determination, gametogenesis, fertilization) identified.
• Shared fertility phenotypes observed in rodents and humans for specific gene deletions.
• New model systems and insights into human consanguineous populations for novel infertility gene discovery.

Conclusions:

• Conserved genes play critical roles in fundamental reproductive processes across species.
• Animal models are essential for understanding gene function in human reproductive tissues.
• Studying consanguineous populations aids in discovering novel monogenic causes of infertility.