ICL tagged posts

Mutations Linked to Genetic Disorders shed light on a crucial DNA repair pathway

 

2 new genes have been identified in which mutations can interfere with a cell’s ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer.

Dividing cells are prone to errors, and so they must be prepared to summon sophisticated emergency systems to deal with potential damage. One type of division-derailing mishap can occur when assault by certain chemicals causes 2 strands of DNA to permanently connect when they shouldn’t, in what scientists call interstrand crosslinks (ICLs). Properly fixing these crosslinks is crucial to preventing cancer, maintaining tissues, and fertility.

To better understand h...

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