One faulty gene copy disrupts the heart's DNA folding and causes birth defects

Researchers found that losing just one copy of the TBX5 gene causes the genome's 3D folding structure in heart cells to unravel, disrupting the genes required to build a healthy heart. The effects vary from cell to cell, which may explain why the same mutation produces different heart defects in different people. The same hidden mechanism could also play a role in other birth defects beyond the heart.

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