Glioblastoma and autism: Possible mechanism for neuronal malformation discovered

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Glioblastoma and autism: Possible mechanism for neuronal malformation discovered

In accordance with the blueprint contained in our DNA, human cells produce proteins that perform specific functions. An essential step in this process is the reading of the DNA and the transcription of the information into mRNA. A multi-center study with significant participation from MedUni Vienna has now shown for the first time that a specific protein, PHF3, plays an important role in transcription: its binding to the enzyme RNA polymerase II (POL II) modulates the reading process. PHF3 binds to POL II via a specific site on its surface called the SPOC domain. If SPOC is defective or absent, PHF3 cannot bind, and neuronal production defects occur. This could be one of the causes of autism and glioblastoma. The study has now been published in the renowned journal Nature Communications.

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