Brain Mosaic

Retrotransposons contribute to genetic variability in human brain cells.

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INSERTED GENES: Retrotransposons are common in brain cells, where they may alter function. Brain tissue of the hippocampus is pictured here. PHOTO RESEARCHERS, INC., THOMAS DEERINCK, NCMIR

J.K. Baillie et al., “Somatic retrotransposition alters the genetic landscape of the human brain,” Nature, 479:534-37, 2011.

Mobile genetic elements may be a source of DNA sequence variation in normal human brain tissue. Geoff Faulkner, now at the University of Queensland, and colleagues showed that retrotransposons, which can copy themselves and integrate into new sites in a cell’s genome, move much more frequently in brain cells compared to germline cells.

Although previous research had shown that there was variation among different people’s brains in the frequency of retrotransposon insertions, none had been mapped to specific locations in the genome. Faulkner’s group mapped retrotransposon insertions in donors’ brain cells, compared them to those found in their blood cells (used as a proxy for germline cells), and ...

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