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TBX5 Gene Loss Disrupts DNA Folding | Science News
One missing copy of the TBX5 gene—thought to be a minor genetic tweak—can catastrophically unravel how DNA folds inside heart cells, disrupting essential gene activation and causing birth defects. This gene acts as an architectural director, ensuring DNA is packed in the right 3D shape for proper function. Researchers found that even half the normal amount of TBX5 triggers widespread misfolding across all levels—from large compartments to tiny loops—and different heart cells react uniquely to the loss, explaining why identical mutations lead to varied outcomes. The discovery hints this…
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