Losing one TBX5 copy disrupts 3D DNA folding in heart cells
Researchers at Gladstone Institutes found that the gene TBX5 helps physically fold DNA into the 3D architecture heart cells need to function. The study, published in Science, showed that losing one of the two normal copies of TBX5 dismantled this DNA organization, with effects on how many other genes were used by cells. The findings offer a new explanation for why haploinsufficiency in TBX5 causes congenital heart disease.
The work suggests a broader mechanism, disrupted 3D DNA folding, may underlie multiple birth defects caused by losing one gene copy.
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