Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using...

Area of Science:

• Genetics
• Reproductive Biology
• Molecular Biology

Background:

• The male sex-determining gene, sex-determining region on the Y chromosome (SRY), is present in adult testicular germ cells.
• The precise function of SRY in regulating spermatogenesis is not fully understood.

Purpose of the Study:

• To investigate the role of SRY in postmeiotic gene expression.
• To determine the effect of SRY on the promoter of the haploid-specific Protamine 1 (PRM1) gene.

Main Methods:

• Luciferase reporter assays were used to assess SRY's effect on the PRM1 promoter activity in vitro.
• Gel-shift assays identified the specific SRY-binding site within the PRM1 promoter.
• SRY variants from azoospermia patients were analyzed.

Main Results:

• SRY was found to upregulate PRM1 promoter activity in a dose-dependent manner.
• The third SRY-binding site (-373/-367) on the PRM1 promoter's sense strand is critical for activation.
• Analysis of SRY variants suggests direct binding to the PRM1 promoter motif.

Conclusions:

• SRY directly binds to a specific motif within the PRM1 promoter.
• This interaction regulates PRM1 promoter activity, suggesting a role for SRY in spermatogenesis.
• SRY variants may impact its regulatory function in male fertility.