RDA coupled with deep sequencing detects somatic SVA-retrotranspositions and mosaicism in the human brain.

ABSTRACT: Cells of the developing human brain are affected by the progressive acquisition of genetic and epigenetic alterations that have been reported to contribute to somatic mosaicism in the adult brain and are increasingly considered a possible cause of neurogenetic disorders. A recent work uncovered that the copy-paste transposable element (TE) LINE-1 (L1) is mobilized during brain development, and thus mobile non-autonomous TEs like AluY and SINE-VNTR-Alu (SVA) families can use L1 activity in trans, leading to de novo insertions that may influence the variability of neural cells at genetic and epigenetic levels. In contrast to SNPs and when considering substitutional sequence evolution, the presence or absence of TEs at orthologous loci represents highly informative clade markers that p

SUBMITTER: Mohner J 

PROVIDER: S-EPMC10267396 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature