The impact of retrotransposons on human genome evolution

The impact of retrotransposons on human genome evolution

2009 October | Richard Cordaux and Mark A. Batzer
Non-LTR retrotransposons, including LINE-1 (L1), Alu, and SVA elements, have proliferated over the past 80 million years of primate evolution and now account for about one-third of the human genome. These elements contribute to genomic changes through insertion mutations, genomic instability, gene expression alterations, and genetic innovation. As human and primate genomes are analyzed in detail, the scale and complexity of their impact on human evolution become clearer. Retrotransposons, which can move within and between genomes, are divided into DNA transposons and retrotransposons. Retrotransposons, such as L1, Alu, and SVA, are the most active in humans, with over 60 reported cases of de novo insertions causing genetic disorders. These elements have a significant evolutionary impact, influencing genome structure and function, contributing to genome size increase, and generating genomic instability through insertion mutagenesis, DNA double-strand breaks, and microsatellite formation. They also play roles in gene conversion, genomic rearrangements, and genetic innovation, such as exonization and gene formation. Retrotransposons can also affect gene expression through promoter activity, polyadenylation signals, and epigenetic regulation. Their activity is regulated by cellular factors, including DNA methylation, RNA interference, and host proteins. The study of retrotransposons provides insights into human evolution, population genetics, and the mechanisms of genomic variation.Non-LTR retrotransposons, including LINE-1 (L1), Alu, and SVA elements, have proliferated over the past 80 million years of primate evolution and now account for about one-third of the human genome. These elements contribute to genomic changes through insertion mutations, genomic instability, gene expression alterations, and genetic innovation. As human and primate genomes are analyzed in detail, the scale and complexity of their impact on human evolution become clearer. Retrotransposons, which can move within and between genomes, are divided into DNA transposons and retrotransposons. Retrotransposons, such as L1, Alu, and SVA, are the most active in humans, with over 60 reported cases of de novo insertions causing genetic disorders. These elements have a significant evolutionary impact, influencing genome structure and function, contributing to genome size increase, and generating genomic instability through insertion mutagenesis, DNA double-strand breaks, and microsatellite formation. They also play roles in gene conversion, genomic rearrangements, and genetic innovation, such as exonization and gene formation. Retrotransposons can also affect gene expression through promoter activity, polyadenylation signals, and epigenetic regulation. Their activity is regulated by cellular factors, including DNA methylation, RNA interference, and host proteins. The study of retrotransposons provides insights into human evolution, population genetics, and the mechanisms of genomic variation.
Reach us at info@study.space
[slides] The impact of retrotransposons on human genome evolution | StudySpace