Version 1
: Received: 31 January 2022 / Approved: 1 February 2022 / Online: 1 February 2022 (12:17:37 CET)
Version 2
: Received: 27 April 2022 / Approved: 28 April 2022 / Online: 28 April 2022 (10:18:37 CEST)
Altemose, N. A Classical Revival: Human Satellite DNAs Enter the Genomics Era. Seminars in Cell & Developmental Biology 2022, 128, 2–14, doi:10.1016/j.semcdb.2022.04.012.
Altemose, N. A Classical Revival: Human Satellite DNAs Enter the Genomics Era. Seminars in Cell & Developmental Biology 2022, 128, 2–14, doi:10.1016/j.semcdb.2022.04.012.
Altemose, N. A Classical Revival: Human Satellite DNAs Enter the Genomics Era. Seminars in Cell & Developmental Biology 2022, 128, 2–14, doi:10.1016/j.semcdb.2022.04.012.
Altemose, N. A Classical Revival: Human Satellite DNAs Enter the Genomics Era. Seminars in Cell & Developmental Biology 2022, 128, 2–14, doi:10.1016/j.semcdb.2022.04.012.
Abstract
The classical human satellite DNAs, also referred to as human satellites 1, 2 and 3 (HSat1, HSat2, HSat3, collectively HSat1-3) constitute the largest individual arrays of tandemly repeated DNA sequences in the genome. Even though they were among the first human DNA sequences to be isolated and characterized at the dawn of molecular biology, HSat1-3 have been left behind in the genomics era and remain among the most enigmatic sequences in the human genome. Although HSat1-3 total roughly 3% of the genome on average, they were almost entirely missing from the human genome reference assembly for 20 years. Recently, the Telomere-to-Telomere Consortium produced the first truly complete assembly of a human genome, including the enormous HSat1-3 arrays, opening them up for a new wave of discovery. Towards this end, here, I provide an account of the history and current understanding of HSat1-3 genomics, evolution, and roles in disease.
satellite DNA; repetitive DNA; tandem repeats; classical human satellites; HSATI; HSATII; HSATIII; HSat1; HSat2; HSat3
Subject
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received:
28 April 2022
Commenter:
Nicolas Altemose
Commenter's Conflict of Interests:
Author
Comment:
Small changes to the text were made, including the addition of subheaders. Figs 1b and 2 were added/remade to include the new complete chrY assembly. Fig 3 was simplified. Table 1 was added. A github is now available and linked.
Commenter: Nicolas Altemose
Commenter's Conflict of Interests: Author