Abstract：
:The healthy human brain is a mosaic of varied genomes. Long interspersed element-1 (LINE-1 or L1) retrotransposition is known to create mosaicism by inserting L1 sequences into new locations of somatic cell genomes. Using a machine learning-based, single-cell sequencing approach, we discovered that somatic L1-associated variants (SLAVs) are composed of two classes: L1 retrotransposition insertions and retrotransposition-independent L1-associated variants. We demonstrate that a subset of SLAVs comprises somatic deletions generated by L1 endonuclease cutting activity. Retrotransposition-independent rearrangements in inherited L1s resulted in the deletion of proximal genomic regions. These rearrangements were resolved by microhomology-mediated repair, which suggests that L1-associated genomic regions are hotspots for somatic copy number variants in the brain and therefore a heritable genetic contributor to somatic mosaicism. We demonstrate that SLAVs are present in crucial neural genes, such as DLG2 (also called PSD93), and affect 44-63% of cells of the cells in the healthy brain.
journal_name
Nat Neuroscijournal_title
Nature neuroscienceauthors
Erwin JA,Paquola AC,Singer T,Gallina I,Novotny M,Quayle C,Bedrosian TA,Alves FI,Butcher CR,Herdy JR,Sarkar A,Lasken RS,Muotri AR,Gage FHdoi
10.1038/nn.4388subject
Has Abstractpub_date
2016-12-01 00:00:00pages
1583-1591issue
12eissn
1097-6256issn
1546-1726pii
nn.4388journal_volume
19pub_type
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