News | Key Genes Revealed: New Discovery May Protect Male Fertility
A University of Edinburgh team discovered two key genes that work together to protect male fertility. The finding may help explain some of the most severe forms of infertility.
Genetic analysis of male infertility showed that rare variants in SPOCD1 disrupt healthy sperm formation at its earliest stage. SPOCD1 also works with the newly identified gene C19orf84 to protect sperm precursor cells—germ cells—from damage.
This partnership is crucial during early embryonic development, when germ cells must protect their DNA and become a self-renewing reserve that produces healthy sperm in adulthood.
Working with researchers at the University of Münster and other universities, Edinburgh scientists screened an international database of 2,913 men in infertility studies. They identified three men with defective SPOCD1 variants that damaged germ cells, prevented healthy sperm development, and caused infertility.
The study also revealed how SPOCD1 and C19orf84 cooperate. The C19orf84 protein acts as an intermediary, linking SPOCD1 to the cellular system that creates protective chemical marks and prevents jumping genes from damaging the genome during sperm development. This offers new insight into how germ cells avoid damage during genetic reprogramming.
The Wellcome-funded study was published in Molecular Cell and included researchers from the University of Oxford, University Hospital Münster, the University of Melbourne, Oregon Health & Science University, the University of Utah, and Technische Universität Berlin.
News | Key Genes Revealed: New Discovery May Protect Male Fertility
News | Key Genes Revealed: New Discovery May Protect Male Fertility
A University of Edinburgh team discovered two key genes that work together to protect male fertility. The finding may help explain some of the most severe forms of infertility.
Genetic analysis of male infertility showed that rare variants in SPOCD1 disrupt healthy sperm formation at its earliest stage. SPOCD1 also works with the newly identified gene C19orf84 to protect sperm precursor cells—germ cells—from damage.
This partnership is crucial during early embryonic development, when germ cells must protect their DNA and become a self-renewing reserve that produces healthy sperm in adulthood.
Working with researchers at the University of Münster and other universities, Edinburgh scientists screened an international database of 2,913 men in infertility studies. They identified three men with defective SPOCD1 variants that damaged germ cells, prevented healthy sperm development, and caused infertility.
The study also revealed how SPOCD1 and C19orf84 cooperate. The C19orf84 protein acts as an intermediary, linking SPOCD1 to the cellular system that creates protective chemical marks and prevents jumping genes from damaging the genome during sperm development. This offers new insight into how germ cells avoid damage during genetic reprogramming.
The Wellcome-funded study was published in Molecular Cell and included researchers from the University of Oxford, University Hospital Münster, the University of Melbourne, Oregon Health & Science University, the University of Utah, and Technische Universität Berlin.
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