Consequences of ongoing retrotransposition in mammalian genomes

摘要: Retrotransposons can have significant influences on gene expression and genome stability through their ability to integrate reverse-transcript copies of sequences at new genomic locations by retrotransposition. These elements been long known retrotranspose in mammalian germ cells give rise inherited insertion alleles, but more recent work has also shown that retrotransposition occur somatic cells, particularly brain tissue tumors. Retrotransposition makes appreciable contributions spontaneous disease- causing alleles humans a contribution mutations mice. Genome-wide studies found high levels polymorphic retrotransposon insertions human populations are consistent with ongoing Many do not disrupt exons, into introns or flanking genes alter patterns, generate truncated antisense transcripts, splicing result premature polyadenylation transcripts. Furthermore, the very copy numbers these lead nonallelic homologous recombination events produce deletions/ duplications rearrangements, evolution particular types cellular functions exaptation. Mobility occurs despite multiple epigenetic mechanisms restrict expression. While potential for retrotransposons significantly influence health is clear, substantial research efforts will be needed fully elucidate actual natural mobility endogenous development other