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Updated: Jan 10, 2026
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Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
Published on: April 10, 2018
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Advances in monogenic female infertility
Hao Gu1, Lei Wang2, Qing Sang1
1Institute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|November 21, 2025
Summary
Female infertility stems from genetic defects affecting oogenesis and endocrine functions. This review highlights single gene variants causing reproductive issues, impacting public health globally.
Area of Science:
- Reproductive biology
- Human genetics
- Endocrinology
Background:
- Female infertility is a significant global health concern.
- Disturbances in oogenesis, folliculogenesis, and endocrine function impair fertility.
- Genetic factors are implicated in various infertility diagnoses, including premature ovarian insufficiency and oocyte defects.
Purpose of the Study:
- To review critical events in human female reproduction.
- To highlight single gene variants responsible for female infertility.
- To emphasize the Mendelian inheritance patterns of these genetic causes.
Main Methods:
- Literature review of genetic studies on female infertility.
- Analysis of identified gene variants and their associated phenotypes.
- Focus on Mendelian inheritance patterns.
Main Results:
- Genetic variants explain a notable percentage of oocyte/embryo defects (13.2%) and premature ovarian insufficiency (18.7%).
- Specific gene variants are linked to disorders of sex development, hypogonadism, and other reproductive issues.
- Mendelian inheritance is a key pattern in many identified genetic causes of infertility.
Conclusions:
- Genetic variations are crucial contributors to female infertility.
- Understanding these genetic underpinnings is vital for diagnosis and potential treatments.
- Further research into genetic causes can address this public health challenge.
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