Genetic research Gene desert controls the development of embryo and heart

Gene-free DNA segments play an important role in the development of the embryo and heart in mice and humans. A study published in "Nature Communications" by the University of Bern (Unibe) shows the importance of such gene deserts.

The human genome contains specific DNA segments, also known as genes. They contain blueprints for proteins. If these sections change and mutations occur, this can lead to diseases or malformations in the embryo, as Unibe announced on Wednesday.

However, mutations could also cause problems in DNA regions without a blueprint for proteins. Previous studies in mice have shown that if the corresponding gene-free DNA section does not function properly, this can lead to severe heart problems and death of the embryo. Gene deserts are very similar in mice and humans.

Using a mouse model, the Bernese research team has shown that the supposedly empty DNA segments contain so-called enhancers. These control, for example, how, when and where the gene is active during embryonic development. In the development of the heart, they play a key role in the formation of the sinus node. This is the natural pacemaker that controls the heartbeat with electrical impulses.

These findings are of great importance for genetic diagnostics, the report continued. Genetic tests that find mutations in such gene deserts can help to identify the risk of certain birth defects or heart diseases at an early stage and treat them accordingly.

SDA