Abstract

Satellite DNA represents one of the most fascinating parts of the repetitive fraction of the eukaryotic genome. Since the discovery of highly repetitive tandem DNA in the 1960s, a lot of literature has extensively covered various topics related to the structure, organization, function, and evolution of such sequences. Today, with the advent of genomic tools, the study of satellite DNA has regained a great interest. Thus, Next-Generation Sequencing (NGS), together with high-throughput in silico analysis of the information contained in NGS reads, has revolutionized the analysis of the repetitive fraction of the eukaryotic genomes. The whole of the historical and current approaches to the topic gives us a broad view of the function and evolution of satellite DNA and its role in chromosomal evolution. Currently, we have extensive information on the molecular, chromosomal, biological, and population factors that affect the evolutionary fate of satellite DNA, knowledge that gives rise to a series of hypotheses that get on well with each other about the origin, spreading, and evolution of satellite DNA. In this paper, I review these hypotheses from a methodological, conceptual, and historical perspective and frame them in the context of chromosomal organization and evolution.

Highlights

  • Eukaryotic genomes are composed of a large amount of different classes of repetitive DNA sequences, either dispersed or arranged in tandem [1,2]

  • higher-order repeat (HOR) organization is found at the centromere of human chromosomes while the pericentromeric heterochromatin is composed of single alpha satellite DNA (satDNA) monomers (50–100% sequence identity), which can coexist with HORs [70,71,96,97,98]

  • There was no distinction between micro- and macrochormosomes [172], but the results suggest the existence of other satDNA families or variants of the HindIII family populating the rest of centromeres

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Summary

Introduction

Eukaryotic genomes are composed of a large amount of different classes of repetitive DNA sequences, either dispersed (mainly transposons and retrotransposons as well as retrotransposed sequences and some protein-coding gene families) or arranged in tandem (ribosomal RNA, protein-coding gene families, satellites, telomeric DNA, centromeric DNA) [1,2]. Plants and animals, the differences in satDNA content might significantly contribute to considerable genome-size differences between related species or even between cytotypes of the same species [9,44,45,47,51] At times, these differences between species are due to the differential amplification of one particular satDNA while other times the differences are mediated by the sum of all satDNA families from each species. The review focuses on the approach to the organization, to the function and to the evolution of satDNA from this perspective of the evolution of all we have been learning during the years

Changing Methods
Changing Concepts
Nucleotide Sequence Composition and Repeat Organization
Defining satellite DNA
Principle of the Equilocal Distribution of Heterochromatin
Satellite DNA Evolution
The “Library” Hypothesis
Concerted Evolution
Factors Influencing Satellite DNA Evolution
Population and Evolutionary Factors
Biological Factors
Functional Constraints
Satellite DNA Function
Centromeres and Pericentromeric Heterochromain
Subtelomeric Heterochromatin
Heterochromatin Assembly
Gene Regulation
Findings
Methods
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