They said it was their family curse: a rare congenital deformity called syndactyly, in which the thumb and index finger are fused together on one or both hands…The scientists have traced the family’s limb anomaly to a novel class of genetic defects unlike any seen before….
The mutations affect a newly discovered design feature of the DNA molecule called topologically associating domains, or TADs.
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By studying TADs, researchers hope to better fathom the deep structure of the human genome, in real time and three dimensions….
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“We realized that in order to understand how genetic information is controlled, we had to figure out how DNA was folded in space,” said Bing Ren of the University of California, San Diego.
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The best evidence for the importance of TADs is to see what happens when they break down. Researchers have lately linked a number of disorders to a loss of boundaries between genomic domains, including cancers of the colon, esophagus, brain and blood.
Now that researchers know what to look for, he said, TAD disruptions may prove to be a common cause of cancer. The same may be true of developmental disorders — like syndactyly.
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: A Family’s Shared Defect Sheds Light on the Human Genome
