Pedigree-based estimation of human mobile element retrotransposition rates

摘要: Germline mutation rates in humans have been estimated for a variety of types, including single nucleotide and large structural variants. Here we directly measure the germline retrotransposition rate three active retrotransposon elements: L1, Alu, SVA. We utilized tools calling Mobile Element Insertions (MEIs) (MELT, RUFUS, TranSurVeyor) on blood-derived whole genome sequence (WGS) data from 603 CEPH individuals, comprising 33 three-generation pedigrees. identified 27 de novo MEIs 440 births. The estimates Alu elements, one 40, is roughly half using phylogenetic analyses, difference magnitude similar to that observed L1 62 births within range previous (1:20-1:200 births). SVA rate, 55 births, much higher than estimate 900 Our large, pedigrees allowed us assess parent-of-origin effects timing insertion events either gametogenesis or early embryonic development. find statistically significant paternal bias retrotransposition. study represents first in-depth analysis dynamics human WGS