Abstract
Satellite DNA comprises long arrays of tandem DNA repeats with moderate to long length, that account for the majority of heterochromatic sequences of the human genome, organizing centromeric, paracentromeric, and acrocentric regions of eukaryotic chromosomes, as well as the human Y chromosome. Tandemly repeated DNA is also found disperse in the human genome with shorter repeat motifs constituting mini- and microsatellite DNA, which are inherited in a Mendelian pattern. Their frequent length polymorphisms make them the most commonly employed DNA markers in forensic identification of individuals. In addition, microsatellite instability is a marker for detection of DNA repair deficiency in cancer. Expansions of the transcribed microsatellite repeat number in specific loci associate with rare chromosomal fragile sites and distinct neurological diseases, some of which show clinical anticipation according to further intergeneration repeat expansions. Clarification of molecular models of the genetic pathophysiology of these diseases has considerably advanced owing to the characterization of translation patterns of triplet repeat-containing mRNA and intracellular accumulation of these transcripts or unfolded proteins. The most recent technologies of massively parallel DNA sequencing generating longer reads more amenable to accurate mapping of repeats to specific chromosomal loci have been improving our understanding of the organization of tandemly repetitive DNA in the human genome and revealing novel potentially polymorphic sequences. This approach will likely add to the research in population genetics and association studies in medical genetics.
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Haddad, L.A. (2021). Satellite and Tandem DNA Repeats in the Human Genome. In: Haddad, L.A. (eds) Human Genome Structure, Function and Clinical Considerations. Springer, Cham. https://doi.org/10.1007/978-3-030-73151-9_6
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