Building a new cell – or a new life – requires patterns of genes and proteins to work together. A mutation to a single gene can have a massive impact on this team effort. Compared to the healthy sperm on the left, those on the right – donated by two brothers with the same genetic mutation – haven’t formed correctly. Researchers find their mutation changes a single amino acid – one of thousands that make a protein called CEP128. This ‘tiny’ change has big knock-on effects – CEP128 usually helps to form the centrosome – a sort of molecular compass that cells use to guide development. Faulty CEP128 leads to developmental problems with sperm’s tail-like flagella. Investigating further in mice, the team reveal disrupting the balance of healthy CEP128 – having too little or even too much – snarls up the working of spermatogenesis which in turn leads to infertility, making centrosome proteins an interesting target for future treatments.
Image adapted from work by Xueguang Zhang, Lingbo Wang, Yongyi Ma, Yan Wang, Hongqian Liu, Mohan Liu and Lang Qin, and colleagues
Fudan University, Shanghai and Sichuan University, Chengdu, China
Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
Published in Nature Communications, March 2022
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