, /PRNewswire/ -- Researchers at the and collaborating institutions have made a groundbreaking discovery that could significantly advance our understanding of genomic disorders. Their latest , funded by the National Institutes of Health and published in , reveals how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. Genomic disorders occur when there are changes or mutations in DNA that disrupt normal biological functions.
These can lead to a range of health issues, including developmental delays and neurological problems. One type of complex DNA mutation involves a structure known as a duplication-triplication/inversion-duplication (DUP-TRP/INV-DUP). This study how these complex rearrangements form and their impact on human health.
The research team, led by PNRI Assistant Investigator , collaborated with lead author , from the at , and other scientists to analyze the DNA of 24 individuals with inverted triplications. They discovered that these rearrangements are caused by segments of DNA switching templates during the repair process. Normally, DNA repair mechanisms use the undamaged complementary strand as a template to accurately repair the damaged DNA.
However, sometimes during repair, the repair machinery may inadvertently switch to a different but similar sequence elsewhere in the genome. These switches occur within pairs of inverted repeats—mirror-image DNA sections that confuse the repair machinery. T.
