Hidden DNA mechanisms of rare genetic diseases uncovered

Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. The study reveals that during DNA repair, segments may switch templates within inverted repeats, leading to structural variations and gene dosage alterations, impacting conditions like MECP2 duplication syndrome. This discovery opens new avenues for understanding and treating rare genetic disorders.

  Updates   Jun 23, 2024   0   20  Add to Reading List
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WhatsApp: 09031633831

To reach more people from NGN1,000 now!

Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. The study reveals that during DNA repair, segments may switch templates within inverted repeats, leading to structural variations and gene dosage alterations, impacting conditions like MECP2 duplication syndrome. This discovery opens new avenues for understanding and treating rare genetic disorders.
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