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Phosphopeptide Analysis of Rodent Epididymal Spermatozoa
Published on: December 30, 2014
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Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
Fuxi Zhu1, Chao Liu2, Fengsong Wang3
1Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei 230022, China.
American Journal of Human Genetics
|July 24, 2018
Summary
Mutations in the PMFBP1 gene cause acephalic spermatozoa syndrome, a severe form of male infertility. This genetic cause can be successfully treated with intracytoplasmic sperm injection (ICSI).
Area of Science:
- Genetics
- Reproductive Biology
- Male Infertility
Background:
- Acephalic spermatozoa syndrome (ASS) is a severe teratozoospermia causing male infertility.
- Previous research identified SUN5 mutations in about half of ASS cases, leaving other causes unknown.
Purpose of the Study:
- To elucidate the genetic mechanisms underlying ASS in patients without SUN5 mutations.
- To investigate the role of the PMFBP1 gene in male infertility and ASS.
Main Methods:
- Whole-exome sequencing was used to identify mutations in a consanguineous family with ASS.
- Sanger sequencing was performed on PMFBP1 in additional ASS patients without SUN5 mutations.
- Pmfbp1 disruption in male mice was analyzed to understand its function.
Main Results:
- A homozygous nonsense mutation in the testis-specific gene PMFBP1 was identified as a cause of ASS.
- PMFBP1 variants were found in additional infertile men with ASS.
- Pmfbp1 disruption in mice resulted in infertility due to acephalic spermatozoa and impaired sperm head-tail connection.
Conclusions:
- Mutations in PMFBP1 are a significant cause of acephalic spermatozoa syndrome and male infertility.
- PMFBP1 cooperates with SUN5 and SPATA6 in sperm development.
- Intracytoplasmic sperm injection (ICSI) is an effective treatment for PMFBP1 mutation-associated male infertility.
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