The impact of retrotransposons on human genome evolution

By Richard Cordaux, Mark A. Batzer. Nature reviews genetics, 2009

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Their ability to move within genomes gives transposable elements an intrinsic propensity to affect genome evolution. Non-long terminal repeat (LTR) retrotransposons — including LINE-1, Alu and SVA elements — have proliferated over the past 80 million years of primate evolution and now account for approximately one-third of the human genome. In this Review, we focus on this major class of elements and discuss the many ways that they affect the human genome: from generating insertion mutations and genomic instability to altering gene expression and contributing to genetic innovation. Increasingly detailed analyses of human and other primate genomes are revealing the scale and complexity of the past and current contributions of non-LTR retrotransposons to genomic change in the human lineage.

Subfields: Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/13f337b7ae16190db724385ccff956949b7bfd97

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Citations in the corpus

A Symbiotic View of Life: We Have Never Been Individuals (2012, background): “We are genomic chimeras: nearly 50% of the human genome consists of transposable DNA sequences acquired exogenously (Lander et al. 2001; Cordaux and Batzer 2009), possibly by the horizontal gene transfer from microbial symbionts to animal cells (see Dunning Hotopp et al. 2007; Altincicek et al.…”
Comparative and demographic analysis of orangutan genomes (2011, neutral): “Thiswasfurther supportedbyprincipalcomponentanalysis,inwhichPC1corresponded totheBornean/Sumatranpopulationlabelandexplained36%ofthe variance(SupplementaryInformationsection20).”
Transposition Driven Genomic Heterogeneity in the Drosophila Brain: A Dissertation (2012, neutral): “TE are believed to be central to genome evolution, in part because their mobilization has the capacity to dramatically influence genome organization (Kazazian, 2004; Cordaux and Batzer, 2009).”
LINE-1 Elements in Structural Variation and Disease (2011, methodology): “Estimates suggest that Alu elements are the most active retrotransposons in the human genome, with new insertions occurring in approximately 1 out of 20 live births (51, 257).”
Somatic retrotransposition alters the genetic landscape of the human brain (2011, background): “Retrotransposition is clearly mutagenic; an estimated 400 million retrotransposon-derived structural variants are present in the global human population 3 and more than 70 diseases involve heritable and de novo retrotransposition events 2 .”
Comprehensive characterization, annotation and innovative use of Infinium DNA methylation BeadChip probes (2016, background): “Second, some large families of repetitive elements have been co-evolving with the human genome for over 100 million years (13) and have diversified into sequences that can be clearly distinguished from other copies in the same family.”
Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021, background): “This suggests that recently acquired hot L1s, which have not yet reached an equilibrium with our species, contribute disproportionately to disease-causing variation (58).”
Targeting p53 pathways: mechanisms, structures and advances in therapy (2023, background): “79 Disinhibition of retrotransposons has been reported to be closely associated with human tumorigenesis.”
Fast Computation and Applications of Genome Mappability (2012, background): “The result is a fractal-like structure with repetitions of different nature [12] appearing at different levels of resolution [13] – from large structural variants, including segmental duplications [14], to copy number variations [15], long and short interspersed repeats, paralogous gene families, ps”
Quake: quality-aware detection and correction of sequencing errors (2010, background): “coli, such as the LINE and SINE retrotransposon families [35].”