Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

 

 

In a recent Cell publication, the Walsh lab from Harvard illustrated the use of the NEXTflex™ PCR-Free DNA Sequencing Kit along with whole-genome amplification to sequence single neurons from human brains. Because recent reports suggest frequent LINE-1 (L1) retrotransposition in human brains, they performed genome-wide L1 insertion profiling of 300 single neurons from cerebral cortex and caudate nuclei of three normal individuals, recovering >80% of germline insertions from single neurons. While the group found somatic L1 insertions, they estimated <0.6 unique somatic insertions per neuron, and most neurons lack detectable somatic insertions, suggesting that L1 is not a major generator of neuronal diversity in cortex and caudate. They also genotyped single cortical cells to characterize the mosaicism of a somatic AKT3 mutation identified in a child with hemimegalencephaly.

Evrony, Cai, et al. (2012) Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain. Cell. Vol. 151, Issue 3, pp. 483-496.

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