Satellite DNA Genomics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 December 2022) | Viewed by 22644

Special Issue Editors


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Guest Editor
Departamento de Genética, Facultad de Ciencias, Universidad de Granada, 18071 Granada, Spain
Interests: satellite DNA; repetitive DNA sequences; genome evolution; centromeres; telomeres; plastomes; mitogenomes
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Division of Molecular Biology, Ruđer Bošković Institute, Bijenička cesta 54, 10000 Zagreb, Croatia
Interests: repetitive DNA sequences; satellite DNA; mobile elements; heterochromatin; centromere; chromosome; genome evolution
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Division of Molecular Biology, Ruđer Bošković Institute, Bijenička cesta 54, 10000 Zagreb, Croatia
Interests: satellite DNA; mobile elements; heterochromatin; bivalves; NGS; satellitome; repeatome; genome biology; genome evolution
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

An important part of the eukaryotic genome is composed of different families of non-coding repetitive DNA sequences organized in tandem arrays that constitute what we know as satellite DNA (satDNA). Despite more than 50 years of study, to this day satDNA is still one of the most intriguing parts of the eukaryotic genome. Notwithstanding, the knowledge of what satDNA is and means has increased considerably in recent years, thanks to the application of genomic and bioinformatics tools. The latest results of satDNA genomics research have revealed key findings on the origin, relationship with transposable elements, organization and evolution of this kind of repetitive sequence s. In addition, the role that satDNA plays in the organization of the centromere, in the assembly of the heterochromatin, in chromosome stability and in the regulation of gene expression has become even more evident.

We would like to invite submissions of original research or review articles on any topic related to “Satellite DNA Ggenomics”. This Special Issue addresses all kinds of research related to our current knowledge on satDNA from a genomics perspective. We look forward to receiving your contributions.

Prof. Dr. Manuel A. Garrido-Ramos
Prof. Dr. Miroslav Plohl
Dr. Eva Šatović-Vukšić
Guest Editors

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Keywords

  • satellite DNA
  • satellitome
  • satellite DNA evolution
  • satellite DNA origin
  • transposable elements–satellite DNA connection
  • satellite DNA transcription
  • satellite DNA function
  • genome evolution
  • genome organization
  • centromere
  • telomere
  • gene regulation
  • cancer
  • next-generation sequencing (NGS)
  • nanopore sequencing
  • PacBio sequencing
  • high-throughput in silico analysis
  • heterochromatin

Published Papers (9 papers)

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Research

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21 pages, 5593 KiB  
Article
The Low-Copy-Number Satellite DNAs of the Model Beetle Tribolium castaneum
by Tena Gržan, Mira Dombi, Evelin Despot-Slade, Damira Veseljak, Marin Volarić, Nevenka Meštrović, Miroslav Plohl and Brankica Mravinac
Genes 2023, 14(5), 999; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14050999 - 28 Apr 2023
Cited by 3 | Viewed by 1177
Abstract
The red flour beetle Tribolium castaneum is an important pest of stored agricultural products and the first beetle whose genome was sequenced. So far, one high-copy-number and ten moderate-copy-number satellite DNAs (satDNAs) have been described in the assembled part of its genome. In [...] Read more.
The red flour beetle Tribolium castaneum is an important pest of stored agricultural products and the first beetle whose genome was sequenced. So far, one high-copy-number and ten moderate-copy-number satellite DNAs (satDNAs) have been described in the assembled part of its genome. In this work, we aimed to catalog the entire collection of T. castaneum satDNAs. We resequenced the genome using Illumina technology and predicted potential satDNAs via graph-based sequence clustering. In this way, we discovered 46 novel satDNAs that occupied a total of 2.1% of the genome and were, therefore, considered low-copy-number satellites. Their repeat units, preferentially 140–180 bp and 300–340 bp long, showed a high A + T composition ranging from 59.2 to 80.1%. In the current assembly, we annotated the majority of the low-copy-number satDNAs on one or a few chromosomes, discovering mainly transposable elements in their vicinity. The current assembly also revealed that many of the in silico predicted satDNAs were organized into short arrays not much longer than five consecutive repeats, and some of them also had numerous repeat units scattered throughout the genome. Although 20% of the unassembled genome sequence masked the genuine state, the predominance of scattered repeats for some low-copy satDNAs raises the question of whether these are essentially interspersed repeats that occur in tandem only sporadically, with the potential to be satDNA “seeds”. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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14 pages, 6336 KiB  
Article
In Silico Identification and Characterization of Satellite DNAs in 23 Drosophila Species from the Montium Group
by Bráulio S. M. L. Silva, Agnello C. R. Picorelli and Gustavo C. S. Kuhn
Genes 2023, 14(2), 300; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14020300 - 23 Jan 2023
Cited by 3 | Viewed by 1778
Abstract
Satellite DNA (satDNA) is a class of tandemly repeated non-protein coding DNA sequences which can be found in abundance in eukaryotic genomes. They can be functional, impact the genomic architecture in many ways, and their rapid evolution has consequences for species diversification. We [...] Read more.
Satellite DNA (satDNA) is a class of tandemly repeated non-protein coding DNA sequences which can be found in abundance in eukaryotic genomes. They can be functional, impact the genomic architecture in many ways, and their rapid evolution has consequences for species diversification. We took advantage of the recent availability of sequenced genomes from 23 Drosophila species from the montium group to study their satDNA landscape. For this purpose, we used publicly available whole-genome sequencing Illumina reads and the TAREAN (tandem repeat analyzer) pipeline. We provide the characterization of 101 non-homologous satDNA families in this group, 93 of which are described here for the first time. Their repeat units vary in size from 4 bp to 1897 bp, but most satDNAs show repeat units < 100 bp long and, among them, repeats ≤ 10 bp are the most frequent ones. The genomic contribution of the satDNAs ranges from ~1.4% to 21.6%. There is no significant correlation between satDNA content and genome sizes in the 23 species. We also found that at least one satDNA originated from an expansion of the central tandem repeats (CTRs) present inside a Helitron transposon. Finally, some satDNAs may be useful as taxonomic markers for the identification of species or subgroups within the group. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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14 pages, 2105 KiB  
Article
Satellitome Analysis on Talpa aquitania Genome and Inferences about the satDNAs Evolution on Some Talpidae
by Juana Gutiérrez, Gaël Aleix-Mata, Eugenia E. Montiel, Diogo C. Cabral-de-Mello, Juan Alberto Marchal and Antonio Sánchez
Genes 2023, 14(1), 117; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14010117 - 31 Dec 2022
Cited by 4 | Viewed by 2128
Abstract
In the genus Talpa a new species, named Talpa aquitania, has been recently described. Only cytogenetic data are available for the nuclear genome of this species. In this work, we characterize the satellitome of the T. aquitania genome that presents 16 different [...] Read more.
In the genus Talpa a new species, named Talpa aquitania, has been recently described. Only cytogenetic data are available for the nuclear genome of this species. In this work, we characterize the satellitome of the T. aquitania genome that presents 16 different families, including telomeric sequences, and they represent 1.24% of the genome. The first satellite DNA family (TaquSat1-183) represents 0.558%, and six more abundant families, including TaquSat1-183, comprise 1.13%, while the remaining 11 sat-DNAs represent only 0.11%. The average A + T content of the SatDNA families was 50.43% and the median monomer length was 289.24 bp. The analysis of these SatDNAs indicated that they have different grades of clusterization, homogenization, and degeneration. Most of the satDNA families are present in the genomes of the other Talpa species analyzed, while in the genomes of other more distant species of Talpidae, only some of them are present, in accordance with the library hypothesis. Moreover, chromosomal localization by FISH revealed that some satDNAs are localized preferentially on centromeric and non-centromeric heterochromatin in T. aquitania and also in the sister species T. occidentalis karyotype. The differences observed between T. aquitania and the close relative T. occidentalis and T. europaea suggested that the satellitome is a very dynamic component of the genomes and that the satDNAs could be responsible for chromosomal differences between the species. Finally, in a broad context, these data contribute to the understanding of the evolution of satellitomes on mammals. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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18 pages, 3017 KiB  
Article
Repeatome Analyses and Satellite DNA Chromosome Patterns in Deschampsia sukatschewii, D. cespitosa, and D. antarctica (Poaceae)
by Alexandra V. Amosova, Olga Yu. Yurkevich, Nadezhda L. Bolsheva, Tatiana E. Samatadze, Svyatoslav A. Zoshchuk and Olga V. Muravenko
Genes 2022, 13(5), 762; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13050762 - 26 Apr 2022
Cited by 4 | Viewed by 2213
Abstract
Subpolar and polar ecotypes of Deschampsia sukatschewii (Popl.) Roshev, D. cespitosa (L.) P. Beauv, and D. antarctica E. Desv. are well adapted to stressful environmental conditions, which make them useful model plants for genetic research and breeding. For the first time, the comparative [...] Read more.
Subpolar and polar ecotypes of Deschampsia sukatschewii (Popl.) Roshev, D. cespitosa (L.) P. Beauv, and D. antarctica E. Desv. are well adapted to stressful environmental conditions, which make them useful model plants for genetic research and breeding. For the first time, the comparative repeatome analyses of subpolar and polar D. sukatschewii, D. cespitosa, and D. antarctica was performed using RepeatExplorer/TAREAN pipelines and FISH-based chromosomal mapping of the identified satellite DNA families (satDNAs). In the studied species, mobile genetic elements of class 1 made up the majority of their repetitive DNA; interspecific variations in the total amount of Ty3/Gypsy and Ty1/Copia retroelements, DNA transposons, ribosomal, and satellite DNA were revealed; 12–18 high confident and 7–9 low confident putative satDNAs were identified. According to BLAST, most D. sukatschewii satDNAs demonstrated sequence similarity with satDNAs of D. antarctica and D. cespitosa indicating their common origin. Chromosomal mapping of 45S rDNA, 5S rDNA, and satDNAs of D. sukatschewii allowed us to construct the species karyograms and detect new molecular chromosome markers important for Deschampsia species. Our findings confirmed that genomes of D. sukatschewii and D. cespitosa were more closely related compared to D. antarctica according to repeatome composition and patterns of satDNA chromosomal distribution. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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7 pages, 406 KiB  
Communication
DNA Satellites Are Transcribed as Part of the Non-Coding Genome in Eukaryotes and Bacteria
by Juan A. Subirana and Xavier Messeguer
Genes 2021, 12(11), 1651; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12111651 - 20 Oct 2021
Cited by 1 | Viewed by 1618
Abstract
It has been shown in recent years that many repeated sequences in the genome are expressed as RNA transcripts, although the role of such RNAs is poorly understood. Some isolated and tandem repeats (satellites) have been found to be transcribed, such as mammalian [...] Read more.
It has been shown in recent years that many repeated sequences in the genome are expressed as RNA transcripts, although the role of such RNAs is poorly understood. Some isolated and tandem repeats (satellites) have been found to be transcribed, such as mammalian Alu sequences and telomeric/centromeric satellites in different species. However, there is no detailed study on the eventual transcription of the interspersed satellites found in many species. Therefore, we decided to study for the first time the transcription of the abundant DNA satellites in the bacterium Bacillus coagulans and in the nematode Caenorhabditis elegans. We have updated the data for C. elegans satellites using the latest version of the genome. We analyzed the transcription of satellites in both species in available RNA-seq results and found that they are widely transcribed. Our demonstration that satellite RNAs are transcribed adds a new family of non-coding RNAs. This is a field that requires further investigation and will provide a deeper understanding of gene expression and control. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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Review

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22 pages, 1064 KiB  
Review
Satellite DNAs—From Localized to Highly Dispersed Genome Components
by Eva Šatović-Vukšić and Miroslav Plohl
Genes 2023, 14(3), 742; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14030742 - 17 Mar 2023
Cited by 20 | Viewed by 2582
Abstract
According to the established classical view, satellite DNAs are defined as abundant non-coding DNA sequences repeated in tandem that build long arrays located in heterochromatin. Advances in sequencing methodologies and development of specialized bioinformatics tools enabled defining a collection of all repetitive DNAs [...] Read more.
According to the established classical view, satellite DNAs are defined as abundant non-coding DNA sequences repeated in tandem that build long arrays located in heterochromatin. Advances in sequencing methodologies and development of specialized bioinformatics tools enabled defining a collection of all repetitive DNAs and satellite DNAs in a genome, the repeatome and the satellitome, respectively, as well as their reliable annotation on sequenced genomes. Supported by various non-model species included in recent studies, the patterns of satellite DNAs and satellitomes as a whole showed much more diversity and complexity than initially thought. Differences are not only in number and abundance of satellite DNAs but also in their distribution across the genome, array length, interspersion patterns, association with transposable elements, localization in heterochromatin and/or in euchromatin. In this review, we compare characteristic organizational features of satellite DNAs and satellitomes across different animal and plant species in order to summarize organizational forms and evolutionary processes that may lead to satellitomes’ diversity and revisit some basic notions regarding repetitive DNA landscapes in genomes. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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14 pages, 8086 KiB  
Review
The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA
by Glennis A. Logsdon and Evan E. Eichler
Genes 2023, 14(1), 92; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14010092 - 28 Dec 2022
Cited by 2 | Viewed by 2620
Abstract
The complete sequence of a human genome provided our first comprehensive view of the organization of satellite DNA associated with heterochromatin. We review how our understanding of the genetic architecture and epigenetic properties of human centromeric DNA have advanced as a result. Preliminary [...] Read more.
The complete sequence of a human genome provided our first comprehensive view of the organization of satellite DNA associated with heterochromatin. We review how our understanding of the genetic architecture and epigenetic properties of human centromeric DNA have advanced as a result. Preliminary studies of human and nonhuman ape centromeres reveal complex, saltatory mutational changes organized around distinct evolutionary layers. Pockets of regional hypomethylation within higher-order α-satellite DNA, termed centromere dip regions, appear to define the site of kinetochore attachment in all human chromosomes, although such epigenetic features can vary even within the same chromosome. Sequence resolution of satellite DNA is providing new insights into centromeric function with potential implications for improving our understanding of human biology and health. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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39 pages, 5179 KiB  
Review
Telomeres and Their Neighbors
by Leon P. Jenner, Vratislav Peska, Jana Fulnečková and Eva Sýkorová
Genes 2022, 13(9), 1663; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13091663 - 16 Sep 2022
Cited by 7 | Viewed by 3247
Abstract
Telomeres are essential structures formed from satellite DNA repeats at the ends of chromosomes in most eukaryotes. Satellite DNA repeat sequences are useful markers for karyotyping, but have a more enigmatic role in the eukaryotic cell. Much work has been done to investigate [...] Read more.
Telomeres are essential structures formed from satellite DNA repeats at the ends of chromosomes in most eukaryotes. Satellite DNA repeat sequences are useful markers for karyotyping, but have a more enigmatic role in the eukaryotic cell. Much work has been done to investigate the structure and arrangement of repetitive DNA elements in classical models with implications for species evolution. Still more is needed until there is a complete picture of the biological function of DNA satellite sequences, particularly when considering non-model organisms. Celebrating Gregor Mendel’s anniversary by going to the roots, this review is designed to inspire and aid new research into telomeres and satellites with a particular focus on non-model organisms and accessible experimental and in silico methods that do not require specialized equipment or expensive materials. We describe how to identify telomere (and satellite) repeats giving many examples of published (and some unpublished) data from these techniques to illustrate the principles behind the experiments. We also present advice on how to perform and analyse such experiments, including details of common pitfalls. Our examples are a selection of recent developments and underexplored areas of research from the past. As a nod to Mendel’s early work, we use many examples from plants and insects, especially as much recent work has expanded beyond the human and yeast models traditional in telomere research. We give a general introduction to the accepted knowledge of telomere and satellite systems and include references to specialized reviews for the interested reader. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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20 pages, 687 KiB  
Review
HSF1-Activated Non-Coding Stress Response: Satellite lncRNAs and Beyond, an Emerging Story with a Complex Scenario
by Claire Vourc’h, Solenne Dufour, Kalina Timcheva, Daphné Seigneurin-Berny and André Verdel
Genes 2022, 13(4), 597; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13040597 - 27 Mar 2022
Cited by 10 | Viewed by 2856
Abstract
In eukaryotes, the heat shock response is orchestrated by a transcription factor named Heat Shock Factor 1 (HSF1). HSF1 is mostly characterized for its role in activating the expression of a repertoire of protein-coding genes, including the heat shock protein (HSP) genes. Remarkably, [...] Read more.
In eukaryotes, the heat shock response is orchestrated by a transcription factor named Heat Shock Factor 1 (HSF1). HSF1 is mostly characterized for its role in activating the expression of a repertoire of protein-coding genes, including the heat shock protein (HSP) genes. Remarkably, a growing set of reports indicate that, upon heat shock, HSF1 also targets various non-coding regions of the genome. Focusing primarily on mammals, this review aims at reporting the identity of the non-coding genomic sites directly bound by HSF1, and at describing the molecular function of the long non-coding RNAs (lncRNAs) produced in response to HSF1 binding. The described non-coding genomic targets of HSF1 are pericentric Satellite DNA repeats, (sub)telomeric DNA repeats, Short Interspersed Nuclear Element (SINE) repeats, transcriptionally active enhancers and the NEAT1 gene. This diverse set of non-coding genomic sites, which already appears to be an integral part of the cellular response to stress, may only represent the first of many. Thus, the study of the evolutionary conserved heat stress response has the potential to emerge as a powerful cellular context to study lncRNAs, produced from repeated or unique DNA regions, with a regulatory function that is often well-documented but a mode of action that remains largely unknown. Full article
(This article belongs to the Special Issue Satellite DNA Genomics)
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