SATELLITE DNA IN THE HUMAN GENOME

Classical human satellite DNAs, also known as human satellites 1, 2, and 3 (HSat1, HSat2, HSat3, or collectively HSat1- 3), occur on most human chromosomes as large pericentromeric tandem repeat arrays, which together constitute approximately 3% of the human genome (100 megabases, on average). Although HSat1-

Altemose N. A classical revival: Human satellite DNAs enter the genomics era. Semin Cell Dev Biol. 2022 Aug;128:2-14. doi: 10.1016/j.semcdb.2022.04.012. Epub 2022 Apr 27. PMID: 35487859. 3 was among the first human DNA sequences to be isolated and characterized at the dawn of molecular biology, they have remained almost completely absent from the reference assembly of the human genome for 20 years, hindering studies of their sequence, regulation, and possible structural roles in the nucleus.

Recently, the Telomere-to-Telomere Consortium produced the first truly complete assembly of a human genome, paving the way for new studies of HSat1- 3 with modern genomic tools.

Altemose N. A classical revival: Human satellite DNAs enter the genomics era. Semin Cell Dev Biol. 2022 Aug;128:2-14. doi: 10.1016/j.semcdb.2022.04.012. Epub 2022 Apr 27. PMID: 35487859.