New insights into the evolution of a gene linked to neurodevelopmental conditions
Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research in FEBS Open Bio reveals that PSPH in ancient human genomes differed functionally from modern and disease-associated versions of the gene.
New insights into the evolution of the PSPH gene, which is connected to neurodevelopmental conditions, have been revealed through research published in FEBS Open Bio. Certain variants of PSPH, when present in the body, are unable to produce sufficient levels of the amino acid L-serine, leading to various issues in the nervous system.
A study conducted by researchers at the Center for Research and Advanced Studies (CINVESTAV) in Mexico has found that the modern human DNA sequence of the PSPH gene differs significantly from sequences found in ancient hunter-gatherers. When the phosphoserine phosphatase enzyme encoded by the PSPH gene was tested in yeast complementation assays, it was discovered that modern human PSPH had the highest functionality, while ancient proteins showed diminished function and disease-associated variants exhibited the weakest function.
This research highlights the potential of using evolution-guided variant prioritization in combination with scalable heterologous assays to uncover functional differences in genes that may otherwise go unnoticed.
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