Repetitive Elements and Human Disorders

Abstract

Repetitive elements comprise over 50% of the mammalian genome, the majority of these being made up of mobile elements. Although most of the mobile elements are inactive, a number are still actively amplifying. This results in a significant level of insertional mutagenesis. Mobile elements contribute even more to aberrant recombination events that produce germ‐line mutations, as well as probably playing a major role in genetic instability in cancer. Other repetitive elements, such as chromosomal duplications and microsatellites (particularly triplet repeats), also lead to genetic damage.

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

“…( 5)). Correlatively, TEs and other forms of repetitive DNA, constituting half of the human genome, are the largest contributor to human genetic variation and impact human health (6) through deleterious copy number variants (CNVs), structural variants (SVs), insertions, deletions, and alterations to gene transcription and splicing.…”

From telomere to telomere: the transcriptional and epigenetic state of human repeat elements

“…(5)). Correlatively, TEs and other forms of repetitive DNA, constituting half of the human genome, are the largest contributor to human genetic variation and impact human health (6) through deleterious copy number variants (CNVs), structural variants (SVs), insertions, deletions, and alterations to gene transcription and splicing.…”