POLR2C and Primary Ovarian Insufficiency

What is it about?

We have identified a new mutation that causes primary ovarian insufficiency. The stop gain mutation is in the third largest of 12 subunits that make up RNA polymerase II, the polymerase responsible for creating mRNA from DNA. The data support previous studies that suggest regions near two of the other RNA polymerase II subunits are important for determining age at menopause in the general population.

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Why is it important?

The majority of primary ovarian insufficiency does not have a cause. The gene mutation identifies a new cause and aligns a rare mutation in a gene with more common gene variation that influence age at menopause.