[HTML][HTML] Human transposon tectonics

KH Burns, JD Boeke - Cell, 2012 - cell.com
Cell, 2012cell.com
Mobile DNAs have had a central role in shaping our genome. More than half of our DNA is
comprised of interspersed repeats resulting from replicative copy and paste events of
retrotransposons. Although most are fixed, incapable of templating new copies, there are
important exceptions to retrotransposon quiescence. De novo insertions cause genetic
diseases and cancers, though reliably detecting these occurrences has been difficult. New
technologies aimed at uncovering polymorphic insertions reveal that mobile DNAs provide a …
Mobile DNAs have had a central role in shaping our genome. More than half of our DNA is comprised of interspersed repeats resulting from replicative copy and paste events of retrotransposons. Although most are fixed, incapable of templating new copies, there are important exceptions to retrotransposon quiescence. De novo insertions cause genetic diseases and cancers, though reliably detecting these occurrences has been difficult. New technologies aimed at uncovering polymorphic insertions reveal that mobile DNAs provide a substantial and dynamic source of structural variation. Key questions going forward include how and how much new transposition events affect human health and disease.
cell.com