MOS mutation causes female infertility with large polar body oocytes

Area of Science:

• Reproductive Biology
• Human Genetics
• Molecular Oncology

Background:

• The Moloney sarcoma oncogene (MOS) encodes a serine/threonine kinase crucial for oocyte meiotic maturation.
• The MOS/MAPK pathway maintains microtubule and chromatin stability during meiotic divisions.

Purpose of the Study:

• To identify pathogenic genes responsible for female infertility presenting as large polar body oocytes.
• To elucidate the role of MOS in oocyte asymmetric division and early human reproduction.

Main Methods:

• Whole-exome sequencing was performed on an infertile patient and family members.
• Bioinformatics analysis was used to assess the pathogenicity of identified mutations.

Main Results:

• A novel homozygous missense mutation (c.591T>G) in the MOS gene was identified.
• The identified MOS mutation was predicted to be harmful.
• The mutation is associated with large polar body oocytes and impaired embryonic development.

Conclusions:

• MOS mutation is a potential cause of female infertility linked to oocyte aneuploidy and developmental issues.
• The MOS variant may influence oocyte asymmetric division via the MAPK/WAVE2/Arp2/3/actin pathway.
• This finding provides insights into MOS function in human reproduction and offers genetic markers for counseling.