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4 pages, 192 KiB

Open AccessEditorial

Chromosome-Centric View of Genome Organization and Evolution

by Maria Sharakhova and Vladimir Trifonov

Genes 2021, 12(8), 1237; https://doi.org/10.3390/genes12081237 - 12 Aug 2021

Cited by 1 | Viewed by 1965

Abstract

Genetic material in all cellular organisms is packed into chromosomes, which represent essential units of inheritance, recombination, and evolution [...] Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

Research

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12 pages, 1521 KiB

Open AccessArticle

Amplified Fragments of an Autosome-Borne Gene Constitute a Significant Component of the W Sex Chromosome of Eremias velox (Reptilia, Lacertidae)

by Artem Lisachov, Daria Andreyushkova, Guzel Davletshina, Dmitry Prokopov, Svetlana Romanenko, Svetlana Galkina, Alsu Saifitdinova, Evgeniy Simonov, Pavel Borodin and Vladimir Trifonov

Genes 2021, 12(5), 779; https://doi.org/10.3390/genes12050779 - 20 May 2021

Cited by 4 | Viewed by 3283

Abstract

Heteromorphic W and Y sex chromosomes often experience gene loss and heterochromatinization, which is frequently viewed as their “degeneration”. However, the evolutionary trajectories of the heterochromosomes are in fact more complex since they may not only lose but also acquire new sequences. Previously, [...] Read more.

Heteromorphic W and Y sex chromosomes often experience gene loss and heterochromatinization, which is frequently viewed as their “degeneration”. However, the evolutionary trajectories of the heterochromosomes are in fact more complex since they may not only lose but also acquire new sequences. Previously, we found that the heterochromatic W chromosome of a lizard Eremias velox (Lacertidae) is decondensed and thus transcriptionally active during the lampbrush stage. To determine possible sources of this transcription, we sequenced DNA from a microdissected W chromosome sample and a total female DNA sample and analyzed the results of reference-based and de novo assembly. We found a new repetitive sequence, consisting of fragments of an autosomal protein-coding gene ATF7IP2, several SINE elements, and sequences of unknown origin. This repetitive element is distributed across the whole length of the W chromosome, except the centromeric region. Since it retained only 3 out of 10 original ATF7IP2 exons, it remains unclear whether it is able to produce a protein product. Subsequent studies are required to test the presence of this element in other species of Lacertidae and possible functionality. Our results provide further evidence for the view of W and Y chromosomes as not just “degraded” copies of Z and X chromosomes but independent genomic segments in which novel genetic elements may arise. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Figure 1

Figure 1
The distribution of coverage depth for the E. velox sequencing reads along the ATF7IP2 gene of P. muralis. (a) The reads derived from the W-specific DNA sample; (b) the reads derived from the total genomic DNA sample. The Y axes indicate coverage. The X axis indicates the coordinates in the chromosome 14 scaffold of the P. muralis genome assembly (GCF_004329235.1). Exons are indicated as solid bars, introns are indicated by thin lines. The image is obtained via the Integrative Genomics Viewer (<a href="https://www.igv.org" target="_blank">https://www.igv.org</a>, accessed on 7 August 2019). Full article ">Figure 2
The reconstructed scheme of the ATF7IP2-derived repeat in the W chromosome of E. velox. (a) Sequence composition of the repeat unit. Pink indicates ATF7IP2-derived sequences, green indicates the POM/Squam1-SINE mobile element, blue indicates other SINE elements, and gray indicates sequences of unknown origin. (b) The reference-based scheme of the ATF7IP2-derived sequences (see <a href="#genes-12-00779-f001" class="html-fig">Figure 1</a> for description), with their relative positions within the repeat unit indicated by the red and blue lines. Full article ">Figure 3
FISH with the PCR-amplified probe to the fragment of the ATF7IP2 gene (red fluorescence) and the W-specific microdissected probe (green fluorescence). Chromosomes are counterstained with DAPI. (a) Metaphase plate of female E. velox. Scale bar: 20 μm. (b) Lampbrush ZW bivalent of E. velox. Scale bar: 15 μm. Insert: agarose gel electrophoresis with the PCR-amplified fragment of the ATF7IP2 gene. Full article ">

19 pages, 4141 KiB

Open AccessArticle

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

by Tatyana V. Karamysheva, Tatyana A. Gayner, Vladimir V. Muzyka, Konstantin E. Orishchenko and Nikolay B. Rubtsov

Genes 2020, 11(12), 1511; https://doi.org/10.3390/genes11121511 - 17 Dec 2020

Cited by 3 | Viewed by 3373

Abstract

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current [...] Read more.

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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17 pages, 5165 KiB

Open AccessArticle

The Puzzling Fate of a Lupin Chromosome Revealed by Reciprocal Oligo-FISH and BAC-FISH Mapping

by Wojciech Bielski, Michał Książkiewicz, Denisa Šimoníková, Eva Hřibová, Karolina Susek and Barbara Naganowska

Genes 2020, 11(12), 1489; https://doi.org/10.3390/genes11121489 - 10 Dec 2020

Cited by 9 | Viewed by 2914

Abstract

Old World lupins constitute an interesting model for evolutionary research due to diversity in genome size and chromosome number, indicating evolutionary genome reorganization. It has been hypothesized that the polyploidization event which occurred in the common ancestor of the Fabaceae family was followed [...] Read more.

Old World lupins constitute an interesting model for evolutionary research due to diversity in genome size and chromosome number, indicating evolutionary genome reorganization. It has been hypothesized that the polyploidization event which occurred in the common ancestor of the Fabaceae family was followed by a lineage-specific whole genome triplication (WGT) in the lupin clade, driving chromosome rearrangements. In this study, chromosome-specific markers were used as probes for heterologous fluorescence in situ hybridization (FISH) to identify and characterize structural chromosome changes among the smooth-seeded (Lupinus angustifolius L., Lupinus cryptanthus Shuttlew., Lupinus micranthus Guss.) and rough-seeded (Lupinus cosentinii Guss. and Lupinus pilosus Murr.) lupin species. Comparative cytogenetic mapping was done using FISH with oligonucleotide probes and previously published chromosome-specific bacterial artificial chromosome (BAC) clones. Oligonucleotide probes were designed to cover both arms of chromosome Lang06 of the L. angustifolius reference genome separately. The chromosome was chosen for the in-depth study due to observed structural variability among wild lupin species revealed by BAC-FISH and supplemented by in silico mapping of recently released lupin genome assemblies. The results highlighted changes in synteny within the Lang06 region between the lupin species, including putative translocations, inversions, and/or non-allelic homologous recombination, which would have accompanied the evolution and speciation. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Figure 1

Figure 1
General scheme of oligonucleotide-based probe development. Full article ">Figure 2
Schematic layout of the oligonucleotide libraries and repetitive sequences in pseudochromosome Lang06. The O1 library is marked in green, the O2 library in red, and the O3 library in yellow. Orange highlights the common region for the O2 and O3 libraries, whereas violet covers the region common to O2 and O4 libraries. Repetitive sequences are shown in black in the middle circle. Bacterial artificial chromosome (BAC) clone localization diagram is shown in blue in the inner circle. Full article ">Figure 3
Fluorescence in situ hybridization (FISH) mapping of oligonucleotide probes in mitotic chromosomes of L. angustifolius. The positions of individual probes are marked by arrows. Probe colors are as follows: green (O1, Lang06 arm (A), red (O2, Lang06 arm (B)), yellow (O3, pericentromeric region of Lang06 arm B) and purple (O4, telomere region of Lang06 arm B). Scale bar: 5 μm. Chromosome Lang06 schematic representation (C), showing the positions of aligned particular oligonucleotide-based or BAC-based probes, was not drawn to scale. Full article ">Figure 4
FISH mapping of oligonucleotide probes (A,B) and oligonucleotide combined with BAC clones (C–E) on mitotic metaphase chromosomes of L. cryptanthus. The positions of individual probes are marked by arrows. Probe colors are as follows: green (O1, Lang06 arm A), red (O2, Lang06 arm B), yellow (O3, pericentromeric region of Lang06 arm B) and purple (O4, telomere region of Lang06 arm B). Scale bar: 5 μm. Schematic representation of probe mapping pattern in L. cryptanthus chromosomes (F), showing observed positions of particular oligonucleotide-based or BAC-based probes, was not drawn to scale. Full article ">Figure 5
FISH mapping of oligonucleotide probes (A–C) and oligonucleotide probes combined with BAC clones (D–F) on mitotic chromosomes of L. micranthus. The positions of individual probes are marked by arrows. Probe colors are as follows: green (O1, Lang06 arm A), red (O2, Lang06 arm B), yellow (O3, pericentromeric region of Lang06 arm B), and purple (O4, telomere region of Lang06 arm B). Scale bar: 5 μm. Schematic representation of probe mapping pattern in L. micranthus chromosomes (G), showing observed positions of particular oligonucleotide-based or BAC-based probes, was not drawn to scale. O3*—beside two major loci, minor signals were also noticed. Full article ">Figure 6
FISH mapping results of oligonucleotide probes (A,B) and oligonucleotide combined with BAC clones (C–E) in mitotic chromosomes of L. cosentinii. The positions of individual probes are marked by arrows. Probe colors are as follows: green (O1, Lang06 arm A), red (O2, Lang06 arm B), yellow (O3, pericentromeric region of Lang06 arm B), and purple (O4, telomere region of Lang06 arm B). Scale bar: 5 μm. Schematic representation of probe mapping pattern in L. cosentinii chromosomes (F), showing observed positions of particular oligonucleotide-based or BAC-based probes, was not drawn to scale. The O3 probe hybridized to multiple loci. Full article ">Figure 7
FISH mapping of oligonucleotide probes (A,B) and oligonucleotide probes combined with BAC clones (C–F) on mitotic chromosomes of L. pilosus. The positions of individual probes are marked by arrows. Probe colors are as follows: green (O1, Lang06 arm A), red (O2, Lang06 arm B), yellow (O3, pericentromeric region of Lang06 arm B), and purple (O4, telomere region of Lang06 arm B). Scale bar: 5 μm. Schematic representation of probe mapping pattern in L. pilosus chromosomes (G), showing observed positions of particular oligonucleotide-based or BAC-based probes, was not drawn to scale. O3*—besides two major loci, minor signals were also noticed. The fragment of <a href="#genes-11-01489-f007" class="html-fig">Figure 7</a>B showing the intra-chromosomal inversion was magnified (marked with orange, dashed line). Full article ">Figure 8
Schematic representation of probe mapping pattern, showing observed positions of particular oligonucleotide-based or BAC-based probes in L. angustifolius (A), L. cryptanthus (B), L. micranthus (C), L. cosentinii (D), and L. pilosus (E) chromosomes. In the case of probe O3 in L. micranthus and L. pilosus, beside two major loci, minor signals were also noticed. In L. cosentinii, the O3 probe hybridized to multiple loci. Chromosome schemes and probes length are not drawn to scale. Full article ">

18 pages, 4068 KiB

Open AccessArticle

Chromosome Distribution of Highly Conserved Tandemly Arranged Repetitive DNAs in the Siberian Sturgeon (Acipenser baerii)

by Larisa S. Biltueva, Dmitry Yu. Prokopov, Svetlana A. Romanenko, Elena A. Interesova, Manfred Schartl and Vladimir A. Trifonov

Genes 2020, 11(11), 1375; https://doi.org/10.3390/genes11111375 - 20 Nov 2020

Cited by 4 | Viewed by 2971

Abstract

Polyploid genomes present a challenge for cytogenetic and genomic studies, due to the high number of similar size chromosomes and the simultaneous presence of hardly distinguishable paralogous elements. The karyotype of the Siberian sturgeon (Acipenser baerii) contains around 250 chromosomes and [...] Read more.

Polyploid genomes present a challenge for cytogenetic and genomic studies, due to the high number of similar size chromosomes and the simultaneous presence of hardly distinguishable paralogous elements. The karyotype of the Siberian sturgeon (Acipenser baerii) contains around 250 chromosomes and is remarkable for the presence of paralogs from two rounds of whole-genome duplications (WGD). In this study, we applied the sterlet-derived acipenserid satDNA-based whole chromosome-specific probes to analyze the Siberian sturgeon karyotype. We demonstrate that the last genome duplication event in the Siberian sturgeon was accompanied by the simultaneous expansion of several repetitive DNA families. Some of the repetitive probes serve as good cytogenetic markers distinguishing paralogous chromosomes and detecting ancestral syntenic regions, which underwent fusions and fissions. The tendency of minisatellite specificity for chromosome size groups previously observed in the sterlet genome is also visible in the Siberian sturgeon. We provide an initial physical chromosome map of the Siberian sturgeon genome supported by molecular markers. The application of these data will facilitate genomic studies in other recent polyploid sturgeon species. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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11 pages, 1280 KiB

Open AccessArticle

Heterochiasmy and Sexual Dimorphism: The Case of the Barn Swallow (Hirundo rustica, Hirundinidae, Aves)

by Lyubov P. Malinovskaya, Katerina Tishakova, Elena P. Shnaider, Pavel M. Borodin and Anna A. Torgasheva

Genes 2020, 11(10), 1119; https://doi.org/10.3390/genes11101119 - 24 Sep 2020

Cited by 12 | Viewed by 4604

Abstract

Heterochiasmy, a sex-based difference in recombination rate, has been detected in many species of animals and plants. Several hypotheses about evolutionary causes of heterochiasmy were proposed. However, there is a shortage of empirical data. In this paper, we compared recombination related traits in [...] Read more.

Heterochiasmy, a sex-based difference in recombination rate, has been detected in many species of animals and plants. Several hypotheses about evolutionary causes of heterochiasmy were proposed. However, there is a shortage of empirical data. In this paper, we compared recombination related traits in females and males of the barn swallow Hirundo rustica (Linnaeus, 1758), the species under strong sexual selection, with those in the pale martin Riparia diluta (Sharpe and Wyatt, 1893), a related and ecologically similar species with the same karyotype (2N = 78), but without obvious sexual dimorphism. Recombination traits were examined in pachytene chromosome spreads prepared from spermatocytes and oocytes. Synaptonemal complexes and mature recombination nodules were visualized with antibodies to SYCP3 and MLH1 proteins, correspondingly. Recombination rate was significantly higher (p = 0.0001) in barn swallow females (55.6 ± 6.3 recombination nodules per autosomal genome), caused by the higher number of nodules at the macrochromosomes, than in males (49.0 ± 4.5). They also showed more even distribution of recombination nodules along the macrochromosomes. At the same time, in the pale martin, sexual differences in recombination rate and distributions were rather small. We speculate that an elevated recombination rate in the female barn swallows might have evolved as a compensatory reaction to runaway sexual selection in males. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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32 pages, 16478 KiB

Open AccessArticle

Genes Containing Long Introns Occupy Series of Bands and Interbands in Drosophila melanogaster Polytene Chromosomes

by Varvara A. Khoroshko, Galina V. Pokholkova, Victor G. Levitsky, Tatyana Yu. Zykova, Oksana V. Antonenko, Elena S. Belyaeva and Igor F. Zhimulev

Genes 2020, 11(4), 417; https://doi.org/10.3390/genes11040417 - 11 Apr 2020

Cited by 4 | Viewed by 4406

Abstract

The Drosophila melanogaster polytene chromosomes are the best model for studying the genome organization during interphase. Despite of the long-term studies available on genetic organization of polytene chromosome bands and interbands, little is known regarding long gene location on chromosomes. To analyze it, [...] Read more.

The Drosophila melanogaster polytene chromosomes are the best model for studying the genome organization during interphase. Despite of the long-term studies available on genetic organization of polytene chromosome bands and interbands, little is known regarding long gene location on chromosomes. To analyze it, we used bioinformatic approaches and characterized genome-wide distribution of introns in gene bodies and in different chromatin states, and using fluorescent in situ hybridization we juxtaposed them with the chromosome structures. Short introns up to 2 kb in length are located in the bodies of housekeeping genes (grey bands or lazurite chromatin). In the group of 70 longest genes in the Drosophila genome, 95% of total gene length accrues to introns. The mapping of the 15 long genes showed that they could occupy extended sections of polytene chromosomes containing band and interband series, with promoters located in the interband fragments (aquamarine chromatin). Introns (malachite and ruby chromatin) in polytene chromosomes form independent bands, which can contain either both introns and exons or intron material only. Thus, a novel type of the gene arrangement in polytene chromosomes was discovered; peculiarities of such genetic organization are discussed. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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14 pages, 8076 KiB

Open AccessArticle

An Insight into the Chromosomal Evolution of Lebiasinidae (Teleostei, Characiformes)

by Francisco de M. C. Sassi, Terumi Hatanaka, Renata Luiza R. de Moraes, Gustavo A. Toma, Ezequiel A. de Oliveira, Thomas Liehr, Petr Rab, Luiz A. C. Bertollo, Patrik F. Viana, Eliana Feldberg, Mauro Nirchio, Manoela Maria F. Marinho, José Francisco de S. e Souza and Marcelo de B. Cioffi

Genes 2020, 11(4), 365; https://doi.org/10.3390/genes11040365 - 28 Mar 2020

Cited by 13 | Viewed by 3129

Abstract

Lebiasinidae fishes have been historically neglected by cytogenetical studies. Here we present a genomic comparison in eleven Lebiasinidae species, in addition to a review of the ribosomal DNA sequences distribution in this family. With that, we develop ten sets of experiments in order [...] Read more.

Lebiasinidae fishes have been historically neglected by cytogenetical studies. Here we present a genomic comparison in eleven Lebiasinidae species, in addition to a review of the ribosomal DNA sequences distribution in this family. With that, we develop ten sets of experiments in order to hybridize the genomic DNA of representative species from the genus Copeina, Copella, Nannostomus, and Pyrrhulina in metaphase plates of Lebiasina melanoguttata. Two major pathways on the chromosomal evolution of these species can be recognized: (i) conservation of 2n = 36 bi-armed chromosomes in Lebiasininae, as a basal condition, and (ii) high numeric and structural chromosomal rearrangements in Pyrrhulininae, with a notable tendency towards acrocentrization. The ribosomal DNA (rDNA) distribution also revealed a marked differentiation during the chromosomal evolution of Lebiasinidae, since both single and multiple sites, in addition to a wide range of chromosomal locations can be found. With some few exceptions, the terminal position of 18S rDNA appears as a common feature in Lebiasinidae-analyzed species. Altogether with Ctenoluciidae, this pattern can be considered a symplesiomorphism for both families. In addition to the specific repetitive DNA content that characterizes the genome of each particular species, Lebiasina also keeps inter-specific repetitive sequences, thus reinforcing its proposed basal condition in Lebiasinidae. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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22 pages, 6539 KiB

Open AccessArticle

Chromosome and Genome Divergence between the Cryptic Eurasian Malaria Vector-Species Anopheles messeae and Anopheles daciae

by Anastasia N. Naumenko, Dmitriy A. Karagodin, Andrey A. Yurchenko, Anton V. Moskaev, Olga I. Martin, Elina M. Baricheva, Igor V. Sharakhov, Mikhail I. Gordeev and Maria V. Sharakhova

Genes 2020, 11(2), 165; https://doi.org/10.3390/genes11020165 - 5 Feb 2020

Cited by 15 | Viewed by 4558

Abstract

Chromosomal inversions are important drivers of genome evolution. The Eurasian malaria vector Anopheles messeae has five polymorphic inversions. A cryptic species, An. daciae, has been discriminated from An. messeae based on five fixed nucleotide substitutions in the internal transcribed spacer 2 (ITS2) [...] Read more.

Chromosomal inversions are important drivers of genome evolution. The Eurasian malaria vector Anopheles messeae has five polymorphic inversions. A cryptic species, An. daciae, has been discriminated from An. messeae based on five fixed nucleotide substitutions in the internal transcribed spacer 2 (ITS2) of ribosomal DNA. However, the inversion polymorphism in An. daciae and the genome divergence between these species remain unexplored. In this study, we sequenced the ITS2 region and analyzed the inversion frequencies of 289 Anopheles larvae specimens collected from three locations in the Moscow region. Five individual genomes for each of the two species were sequenced. We determined that An. messeae and An. daciae differ from each other by the frequency of polymorphic inversions. Inversion X1 was fixed in An. messeae but polymorphic in An. daciae populations. The genome sequence comparison demonstrated genome-wide divergence between the species, especially pronounced on the inversion-rich X chromosome (mean Fst = 0.331). The frequency of polymorphic autosomal inversions was higher in An. messeae than in An. daciae. We conclude that the X chromosome inversions play an important role in the genomic differentiation between the species. Our study determined that An. messeae and An. daciae are closely related species with incomplete reproductive isolation. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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20 pages, 6072 KiB

Open AccessArticle

Structural and Functional Dissection of the 5′ Region of the Notch Gene in Drosophila melanogaster

by Elena I. Volkova, Natalya G. Andreyenkova, Oleg V. Andreyenkov, Darya S. Sidorenko, Igor F. Zhimulev and Sergey A. Demakov

Genes 2019, 10(12), 1037; https://doi.org/10.3390/genes10121037 - 12 Dec 2019

Cited by 3 | Viewed by 4106

Abstract

Notch is a key factor of a signaling cascade which regulates cell differentiation in all multicellular organisms. Numerous investigations have been directed mainly at studying the mechanism of Notch protein action; however, very little is known about the regulation of activity of the [...] Read more.

Notch is a key factor of a signaling cascade which regulates cell differentiation in all multicellular organisms. Numerous investigations have been directed mainly at studying the mechanism of Notch protein action; however, very little is known about the regulation of activity of the gene itself. Here, we provide the results of targeted 5′-end editing of the Drosophila Notch gene in its native environment and genetic and cytological effects of these changes. Using the Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated protein 9 (CRISPR/Cas9) system in combination with homologous recombination, we obtained a founder fly stock in which a 4-kb fragment, including the 5′ nontranscribed region, the first exon, and a part of the first intron of Notch, was replaced by an attachment Phage (attP) site. Then, fly lines carrying a set of six deletions within the 5′untranscribed region of the gene were obtained by ΦC31-mediated integration of transgenic constructs. Part of these deletions does not affect gene activity, but their combinations with transgenic construct in the first intron of the gene cause defects in the Notch target tissues. At the polytene chromosome level we defined a DNA segment (~250 bp) in the Notch5′-nontranscribed region which when deleted leads to disappearance of the 3C6/C7 interband and elimination of CTC-Factor (CTCF) and Chromator (CHRIZ) insulator proteins in this region. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Figure 1
CRISPR/Cas9-induced homology-directed repair (HDR) with a pGX-attP{3′-5′ HA-N} donor vector. (A) Molecular and genetic map of the Notch locus. (B) Scheme of the 5′ region of Notch gene and HDR strategy utilized to replace the region with attachment Phage (attP) landing site of ΦC31 phage integration system. The target sites are indicated as “scissors”. Homology arms of 2.4 kb and 3.5 kb immediately flanking the cleavage sites were cloned into pGX-attP vector. The pGX-attP[3′-5′ HA-N] vector contains an attP site for subsequent access to a targeted locus and a mini-white gene under control of the hsp70 promoter and GMR (gene modulating RNase II) enhancer, which drives expression in the eye, flanked by loxP recombination sites for its removal. (C) The pGX-attP[3′-5′ HA-N] donor and the plasmids encoding guide-RNAs (gRNAs) were injected into vasa-Cas9 embryos for generation of the w+ founder line (dN w+). Mini-white cassette was then removed by Cre and a founder line carrying only single attP site was created (dNw–). (D) A full-size 4-kb fragment of the 5′ region of the Notch gene was cloned into the pGE-attB-GMR [w+] vector, which was then integrated into the deletion region of the founder line through ΦC31-mediated DNA integration. (E) As a result of integration, the target region was restored at its original genomic locus together with w+ and vector sequences (AEs). Extra vector sequences, together with w+, were removed by Cre recombinase to produce the fly stock where in the engineered target region was flanked by attR and loxP sites (Nresc [w–]). (F) Schematic diagram of deletions in the 5′ region of the Notch gene (more details are given in the text). Full article ">Figure 2
Scanning electron micrographs of the male eyes hemizygous for the indicated genotypes. Flies carrying deletions and AE [w+] were raised at 25 °C and 18 °C. The eyes of N-resc[w+] and N-resc[w–] males display minor abnormalities of the bristle and ommatidial pattern. The phenotypes of d3[w+] and fa-swb are more extreme. For more details see the text. Full article ">Figure 3
Pleiotropic effects in females trans-heterozygous for the founder deletion dN. (A) Defects in the facet structure. (B) There is an enhancement of the hair distribution on the thorax and legs of fa-swb/dN flies (“hairy” phenotype). (C) The wing veins are thickened, deltas are formed at the wing margins and apical notches are seen. The N-resc[w+]/dN females have gaps of the wing margin. The range of the phenotypes obtained are shown. (D) Curved tibia. Full article ">Figure 4
Scanning electron micrographs of the eyes of females trans-heterozygous for the founder deletion chromosome dN, raised at 25 °C and 18 °C. For description see the text. Full article ">Figure 5
Truncation of the Notch 5′ end region changes the cytological structure of the 3C region in the polytene X chromosome. (A) Phase contrast images: OR (wild-type fly line, control), N-resc[w+] and d3[w+] (targeted mutations in the 5′ end region of Notch gene), and fa[swb] (Nfa-swb deficiency in the 5′ flanking region of Notch). (B) Fluorescent in situ hybridization (FISH) localization of the DNA probe pGX-attP{3′-5′ HA-N} (green) in the 3C region of the N-resc[w+] line. DNA staining (black).Arrows point to hybridization signal of the probe pGX-attP[3′-5′HA-N] in the artificial (thicker) interband (in normal conditions, hs-) or in the artificial puff (after heat shock, hs+), marked with a bracket. Arrowheads indicate additional signal in the 3C1–C2 region, where the white gene is situated. Cytological map of the 3C region according to Bridges (1938) is shown on top of each panel, lines connect some of the marker bands. O-R: wild-type line; fa-[swb]:Nfa-swbdeletion. Bar, 5 µm. Full article ">Figure 6
The 3C region of the polytene X-chromosome. (A) Bridges’ map, (B) Chromosomes from the N-rescue[w–], (C) d1[w–], (D) d3[w–], and (E) Nfa-swb flies. Bar, 1 µm. Full article ">Figure 7
Indirect immunostaining of insulator proteins CHROMATOR (A) and dCTC-Factor (B) in the 3C region of the polytene X chromosome. DNA staining (black), CHROMATOR (CHRO) and CTCF signals (green). Red arrows point to the thin band 3C7, containing the body of the Notch gene. The top in each panel features the cytological map of 3C region according to Bridges (1938), lines connect some of the marker bands. Yellow and blue arrows show an overlay of CHRO and dCTCF immunostaining signals in 3C6/C7 interband, respectively. Yellow and blue arrowheads show CHRO and dCTCF signals adjacent to the above signals and used as a reference. O-R: wild-type line; fa-[swb]:Nfa-swb deletion. Bar, 5 µm. Full article ">Figure 8
Map of the Notch locus (A) and 5′-end of the Notch gene on a larger scale (B). (1) Genomic coordinates (kbp). (2) Gene map. (3)4HMM-derived chromatin map [<a href="#B46-genes-10-01037" class="html-bibr">46</a>]. (4) Enrichment profiles of insulator proteins in S2 cells (modENCODE project, <a href="http://intermine.modencode.org" target="_blank">http://intermine.modencode.org</a>). (5) Histone H1 dip localization in Kc cells [<a href="#B25-genes-10-01037" class="html-bibr">25</a>]. (6) DNase I hypersensitivity sites (DHS) in S2 cells [<a href="#B27-genes-10-01037" class="html-bibr">27</a>] and in salivary glands of third-instar larvae [<a href="#B22-genes-10-01037" class="html-bibr">22</a>]. (7) Borders of the bands in the region, as defined by the 4HMM. (8) DNA fragments capable (white) and not capable (black) of forming an interband in a new genetic environment [<a href="#B38-genes-10-01037" class="html-bibr">38</a>,<a href="#B45-genes-10-01037" class="html-bibr">45</a>]. (9) Deletions of DNA segments from the 5′-regulatory part of the Notch gene causing (black) and not causing (white) the collapse of the endogenous interband 3C6/C7 (current investigation). Full article ">

14 pages, 4268 KiB

Open AccessFeature PaperArticle

ZZ/ZW Sex Determination with Multiple Neo-Sex Chromosomes is Common in Madagascan Chameleons of the Genus Furcifer (Reptilia: Chamaeleonidae)

by Michail Rovatsos, Marie Altmanová, Barbora Augstenová, Sofia Mazzoleni, Petr Velenský and Lukáš Kratochvíl

Genes 2019, 10(12), 1020; https://doi.org/10.3390/genes10121020 - 6 Dec 2019

Cited by 21 | Viewed by 8932

Abstract

Chameleons are well-known, highly distinctive lizards characterized by unique morphological and physiological traits, but their karyotypes and sex determination system have remained poorly studied. We studied karyotypes in six species of Madagascan chameleons of the genus Furcifer by classical (conventional stain, C-banding) and [...] Read more.

Chameleons are well-known, highly distinctive lizards characterized by unique morphological and physiological traits, but their karyotypes and sex determination system have remained poorly studied. We studied karyotypes in six species of Madagascan chameleons of the genus Furcifer by classical (conventional stain, C-banding) and molecular (comparative genomic hybridization, in situ hybridization with rDNA, microsatellite, and telomeric sequences) cytogenetic approaches. In contrast to most sauropsid lineages, the chameleons of the genus Furcifer show chromosomal variability even among closely related species, with diploid chromosome numbers varying from 2n = 22 to 2n = 28. We identified female heterogamety with cytogenetically distinct Z and W sex chromosomes in all studied species. Notably, multiple neo-sex chromosomes in the form Z₁Z₁Z₂Z₂/Z₁Z₂W were uncovered in four species of the genus (F. bifidus, F. verrucosus, F. willsii, and previously studied F. pardalis). Phylogenetic distribution and morphology of sex chromosomes suggest that multiple sex chromosomes, which are generally very rare among vertebrates with female heterogamety, possibly evolved several times within the genus Furcifer. Although acrodontan lizards (chameleons and dragon lizards) demonstrate otherwise notable variability in sex determination, it seems that female heterogamety with differentiated sex chromosomes remained stable in the chameleons of the genus Furcifer for about 30 million years. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Giemsa-stained karyograms of Furcifer antimena (a), F. minor (b), F. bifidus (c,d), F. lateralis (e,f), F. verrucosus (g,h), and F. willsii (i,j). Sex chromosomes are indicated. Full article ">Figure 2
C-banded metaphases of Furcifer antimena (a), F. minor (b), F. bifidus (c,d), F. lateralis (e,f), F. verrucosus (g,h), and F. willsii (i,j). W chromosome is marked in females. Full article ">Figure 3
Position of telomeric repeats in metaphases from Furcifer antimena (a), F. minor (b), F. bifidus (c), F. lateralis (d), F. verrucosus (e), and F. willsii (f). Arrowheads point to signals detected by FISH on both arms of a pair of macrochromosomes. W chromosome is marked in females. Full article ">Figure 4
Position of rDNA loci in metaphases of Furcifer antimena (a), F. minor (b), F. bifidus (c), F. lateralis (d), F. verrucosus (e) and F. willsii (f). Arrowheads point to signals detected by fluorescence in situ hybridization (FISH) with empty arrowheads marking signals on both arms of a pair of macrochromosomes. W chromosome is marked in females. Full article ">Figure 5
Distribution of the microsatellite motifs GATA (a–d), AG (e–h), and TAC (i–l), and comparative genome hybridization (CGH) (m–t) in Furcifer bifidus, F. lateralis, F. verrucosus, and F. willsii. Sex chromosomes with signal from in situ hybridization are marked. Note that there are no visible sex-specific regions in males (q–t), in comparison to females, where a female-specific region was detected in the W chromosome (m–p). Full article ">Figure 6
Phylogenetic relationships of the studied species of the genus Furcifer following Pyron and Burbrink [<a href="#B51-genes-10-01020" class="html-bibr">51</a>]. Diploid chromosome numbers and sex chromosome constitution are illustrated. Full article ">

17 pages, 7502 KiB

Open AccessArticle

Cytogenetic Analysis Did Not Reveal Differentiated Sex Chromosomes in Ten Species of Boas and Pythons (Reptilia: Serpentes)

by Barbora Augstenová, Sofia Mazzoleni, Alexander Kostmann, Marie Altmanová, Daniel Frynta, Lukáš Kratochvíl and Michail Rovatsos

Genes 2019, 10(11), 934; https://doi.org/10.3390/genes10110934 - 15 Nov 2019

Cited by 13 | Viewed by 5365

Abstract

Homologous and differentiated ZZ/ZW sex chromosomes (or derived multiple neo-sex chromosomes) were often described in caenophidian snakes, but sex chromosomes were unknown until recently in non-caenophidian snakes. Previous studies revealed that two species of boas (Boa imperator, B. constrictor) and [...] Read more.

Homologous and differentiated ZZ/ZW sex chromosomes (or derived multiple neo-sex chromosomes) were often described in caenophidian snakes, but sex chromosomes were unknown until recently in non-caenophidian snakes. Previous studies revealed that two species of boas (Boa imperator, B. constrictor) and one species of python (Python bivittatus) independently evolved XX/XY sex chromosomes. In addition, heteromorphic ZZ/ZW sex chromosomes were recently revealed in the Madagascar boa (Acrantophis sp. cf. dumerili) and putatively also in the blind snake Myriopholis macrorhyncha. Since the evolution of sex chromosomes in non-caenophidian snakes seems to be more complex than previously thought, we examined ten species of pythons and boas representing the families Boidae, Calabariidae, Candoiidae, Charinidae, Pythonidae, and Sanziniidae by conventional and molecular cytogenetic methods, aiming to reveal their sex chromosomes. Our results show that all examined species do not possess sex-specific differences in their genomes detectable by the applied cytogenetic methods, indicating the presence of poorly differentiated sex chromosomes or even the absence of sex chromosomes. Interestingly, fluorescence in situ hybridization with telomeric repeats revealed extensive distribution of interstitial telomeric repeats in eight species, which are likely a consequence of intra-chromosomal rearrangements. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Giemsa-stained karyograms of Calabaria reinhardtii (a,b), Candoia paulsoni (c,d), Chilabothrus angulifer (e,f), Lichanura trivirgata (g,h), Morelia bredli × M. spilota hybrid (i,j) and Morelia bredli (k). Full article ">Figure 2
Distribution of heterochromatic blocks uncovered by C-banding in metaphases of Calabaria reinhardtii (a,b), Candoia paulsoni (c,d), Chilabothrus angulifer (e,f), Eunectes notaeus (g,h), Lichanura trivirgata (i,j), Morelia spilota (k,l), Morelia bredli × M. spilota hybrid (m,n) and Morelia bredli (o). Full article ">Figure 3
Distribution of (TTAGGG)n motifs in metaphases of Acrantophis dumerili (a,b), Acrantophis madagascariensis (c,d), Calabaria reinhardtii (e,f), Candoia paulsoni (g,h), Chilabothrus angulifer (i,j), Eunectes notaeus (k,l), Lichanura trivirgata (m,n), Morelia spilota (o,p), Morelia bredli × M. spilota hybrid (q,r), Morelia bredli (s), and Sanzinia madagascariensis (t,u). Chromosomes with interstitial telomeric repeats are shown by arrows. Full article ">Figure 4
Topology of rDNA loci in metaphases of Acrantophis dumerili (a,b), Acrantophis madagascariensis (c,d), Calabaria reinhardtii (e,f), Candoia paulsoni (g,h), Chilabothrus angulifer (i,j), Eunectes notaeus (k,l), Lichanura trivirgata (m,n), Morelia spilota (o,p), Morelia bredli × M. spilota hybrid (q,r), Morelia bredli (s), and Sanzinia madagascariensis (t,u). Chromosomes with detected signal are shown by arrows. Full article ">Figure 5
Distribution of (GATA)8 motifs in metaphases of Acrantophis dumerili (a,b), Acrantophis madagascariensis (c,d), Calabaria reinhardtii (e,f), Candoia paulsoni (g,h), Chilabothrus angulifer (i,j), Eunectes notaeus (k,l), Lichanura trivirgata (m,n), Morelia spilota (o,p), Morelia bredli × M. spilota hybrid (q,r), Morelia bredli (s), and Sanzinia madagascariensis (t,u). Chromosomes with detected signal are shown by arrows. Full article ">Figure 6
Comparative genomic hybridization in metaphases of Calabaria reinhardtii (a,b), Candoia paulsoni (c,d), Chilabothrus angulifer (e,f), Eunectes notaeus (g,h), Lichanura trivirgata (i,j), Morelia spilota (k,l), and Morelia bredli × M. spilota hybrid (m,n). Full article ">Figure 7
Idiogram showing the comparative topology of ITRs (in red) and rDNA loci (in green) on the chromosomes of 18 species of boas and pythons. The original data were extracted from Viana et al. [<a href="#B17-genes-10-00934" class="html-bibr">17</a>] for species marked with asterisk (*). The phylogenetic relationships follow Reynolds et al. [<a href="#B39-genes-10-00934" class="html-bibr">39</a>]. Full article ">

18 pages, 3113 KiB

Open AccessArticle

Germline-Specific Repetitive Elements in Programmatically Eliminated Chromosomes of the Sea Lamprey (Petromyzon marinus)

by Vladimir A. Timoshevskiy, Nataliya Y. Timoshevskaya and Jeramiah J. Smith

Genes 2019, 10(10), 832; https://doi.org/10.3390/genes10100832 - 22 Oct 2019

Cited by 14 | Viewed by 4264

Abstract

The sea lamprey (Petromyzon marinus) is one of few vertebrate species known to reproducibly eliminate large fractions of its genome during normal embryonic development. This germline-specific DNA is lost in the form of large fragments, including entire chromosomes, and available evidence [...] Read more.

The sea lamprey (Petromyzon marinus) is one of few vertebrate species known to reproducibly eliminate large fractions of its genome during normal embryonic development. This germline-specific DNA is lost in the form of large fragments, including entire chromosomes, and available evidence suggests that DNA elimination acts as a permanent silencing mechanism that prevents the somatic expression of a specific subset of “germline” genes. However, reconstruction of eliminated regions has proven to be challenging due to the complexity of the lamprey karyotype. We applied an integrative approach aimed at further characterization of the large-scale structure of eliminated segments, including: (1) in silico identification of germline-enriched repeats; (2) mapping the chromosomal location of specific repetitive sequences in germline metaphases; and (3) 3D DNA/DNA-hybridization to embryonic lagging anaphases, which permitted us to both verify the specificity of elements to physically eliminated chromosomes and characterize the subcellular organization of these elements during elimination. This approach resulted in the discovery of several repetitive elements that are found exclusively on the eliminated chromosomes, which subsequently permitted the identification of 12 individual chromosomes that are programmatically eliminated during early embryogenesis. The fidelity and specificity of these highly abundant sequences, their distinctive patterning in eliminated chromosomes, and subcellular localization in elimination anaphases suggest that these sequences might contribute to the specific targeting of chromosomes for elimination or possibly in molecular interactions that mediate their decelerated poleward movement in chromosome elimination anaphases, isolation into micronuclei and eventual degradation. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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Figure 1
Repetitive DNA in situ hybridization in eliminating cells of 1.5 dpf sea lamprey embryos. (A) An example of competitive hybridization repetitive DNA fraction from testes (red) and liver (green) in a cell containing micronuclei. (B) Hybridization of C0t2 DNA-probes from germline (red) and somatic (green) to a lagging anaphase and a corresponding fluorescence intensity profile (measurement plane is marked by a horizontal line). (C) Hybridization of C0t1 (red) and Germ1 (green) to a lagging anaphase. Full article ">Figure 2
Estimates of the total genomic span and germline enrichment of repetitive sequences in the lamprey genome. The plot on the lower left shows enrichment values for the entire collection of reconstructed repetitive elements, including Germ1. The larger plot on the upper right focuses on repeats that span <1.5 megabases. Sequences belonging to repeat classes selected for hybridization are highlighted by colors corresponding to their repeat class. Full article ">Figure 3
Chromosomal localization of the germline-restricted repeats. (A) FISH of Germ1–7, repeats and telomeric/centromeric (liver C0t2) probes on spermatid spreads, with DAPI counterstaining (grey or blue). (B) A karyogram of germline-restricted chromosomes (including a somatically-retained bivalent that cross-hybridizes with Germ1: labeled with an asterisk). This bivalent presumably encodes somatic ribosomal RNAs, which share sequence homology with Germ1 [<a href="#B19-genes-10-00832" class="html-bibr">19</a>]. Each chromosome in the karyogram (B) is shown in four states: 1: grayscale DAPI counterstain; 2: hybridized with Germ1 (FITC, green), Germ2 (Cy3, red), and Germ 3 (Cy5, pseudocolored in yellow); 3: hybridized with Germ4 (FITC, green) and Germ5 (Cy3, red); 4: hybridized with Germ6 (FITC, green) and Germ7 (Cy3, red). Full article ">Figure 4
An idiogram of germline-specific chromosomes. Twelve germline-specific chromosomes (a–l) can be distinguished by DAPI staining and hybridization patterns of Germ1–7 repetitive elements in meiotic metaphase-I spreads (<a href="#genes-10-00832-f004" class="html-fig">Figure 4</a>). Profile plots were generated based on the fluorescence intensity of hybridized DNA-probes corresponding to each repeat. Full article ">Figure 5
Lagging chromosomes and germline-restricted repeats. Representative examples from FISH of seven repetitive elements to lagging anaphases from 1.5 dpf sea lamprey embryos: (A) Germ1 (white), Germ2 (green), Germ6 (red); (B) Germ5 (red), Germ4 (green), Germ3 (white); (C) Germ7 (red). Full article ">Figure 6
Chromosome lagging in anaphases from 1.5. dpf embryos, illustrating progression through anaphase and the antiparallel orientation of lagging chromosomes. (A) Earlier stages of anaphase chromosome separation show symmetrical hybridization patterns for germline-specific repeats. The repeat Germ1 is primarily located on the poleward ends of stretched chromosomes, which is consistent with its pericentromeric location. In contrast, the repeat Germ2 is localized to the midzone of bridging anaphases. (B,C) FISH of a probe for the pericentromeric repeat Pm-rep1 (red), telomere PNA probe (green), and testes genomic DNA (Cy5, shown in blue). The Pm-rep1 probe also yields fainter signals on the distal edges of lagging chromosomes which are often colocalized with distal telomeric signals. Chromatid contacts are characterized by denser DNA staining and FISH signals marking the telomeres/subtelomeres of sister chromatids which are often visible adjacent to each other (especially on panel A). Later in anaphase, (C) germline-specific chromosomes retain a stretched morphology and generally bear FISH signals from probes marking their edges (centromeres and telomeres). (D) Schematic depiction of chromosome elimination in the sea lamprey referencing features of the examples provided in panels B and C. Full article ">Figure 7
Telomeric contacts during chromosome elimination. Fluorescence in situ hybridization of telomere-specific (green) and Germ2 (red) to an anaphase from a 1.5 dpf embryo. See <a href="#app1-genes-10-00832" class="html-app">Figure S6</a> for additional examples. Full article ">

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18 pages, 1082 KiB

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Multi-Scale Organization of the Drosophila melanogaster Genome

by Samantha C. Peterson, Kaylah B. Samuelson and Stacey L. Hanlon

Genes 2021, 12(6), 817; https://doi.org/10.3390/genes12060817 - 27 May 2021

Cited by 12 | Viewed by 6541

Abstract

Interphase chromatin, despite its appearance, is a highly organized framework of loops and bends. Chromosomes are folded into topologically associating domains, or TADs, and each chromosome and its homolog occupy a distinct territory within the nucleus. In Drosophila, genome organization is exceptional [...] Read more.

Interphase chromatin, despite its appearance, is a highly organized framework of loops and bends. Chromosomes are folded into topologically associating domains, or TADs, and each chromosome and its homolog occupy a distinct territory within the nucleus. In Drosophila, genome organization is exceptional because homologous chromosome pairing is in both germline and somatic tissues, which promote interhomolog interactions such as transvection that can affect gene expression in trans. In this review, we focus on what is known about genome organization in Drosophila and discuss it from TADs to territory. We start by examining intrachromosomal organization at the sub-chromosome level into TADs, followed by a comprehensive analysis of the known proteins that play a key role in TAD formation and boundary establishment. We then zoom out to examine interhomolog interactions such as pairing and transvection that are abundant in Drosophila but rare in other model systems. Finally, we discuss chromosome territories that form within the nucleus, resulting in a complete picture of the multi-scale organization of the Drosophila genome. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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13 pages, 560 KiB

Open AccessReview

Bridging the Gap between Vertebrate Cytogenetics and Genomics with Single-Chromosome Sequencing (ChromSeq)

by Alessio Iannucci, Alexey I. Makunin, Artem P. Lisachov, Claudio Ciofi, Roscoe Stanyon, Marta Svartman and Vladimir A. Trifonov

Genes 2021, 12(1), 124; https://doi.org/10.3390/genes12010124 - 19 Jan 2021

Cited by 12 | Viewed by 4699

Abstract

The study of vertebrate genome evolution is currently facing a revolution, brought about by next generation sequencing technologies that allow researchers to produce nearly complete and error-free genome assemblies. Novel approaches however do not always provide a direct link with information on vertebrate [...] Read more.

The study of vertebrate genome evolution is currently facing a revolution, brought about by next generation sequencing technologies that allow researchers to produce nearly complete and error-free genome assemblies. Novel approaches however do not always provide a direct link with information on vertebrate genome evolution gained from cytogenetic approaches. It is useful to preserve and link cytogenetic data with novel genomic discoveries. Sequencing of DNA from single isolated chromosomes (ChromSeq) is an elegant approach to determine the chromosome content and assign genome assemblies to chromosomes, thus bridging the gap between cytogenetics and genomics. The aim of this paper is to describe how ChromSeq can support the study of vertebrate genome evolution and how it can help link cytogenetic and genomic data. We show key examples of ChromSeq application in the refinement of vertebrate genome assemblies and in the study of vertebrate chromosome and karyotype evolution. We also provide a general overview of the approach and a concrete example of genome refinement using this method in the species Anolis carolinensis. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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21 pages, 1088 KiB

Open AccessReview

Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

by Ekaterina N. Tolmacheva, Stanislav A. Vasilyev and Igor N. Lebedev

Genes 2020, 11(9), 1084; https://doi.org/10.3390/genes11091084 - 17 Sep 2020

Cited by 11 | Viewed by 5039

Abstract

Genome stability is an integral feature of all living organisms. Aneuploidy is the most common cause of fetal death in humans. The timing of bursts in increased aneuploidy frequency coincides with the waves of global epigenetic reprogramming in mammals. During gametogenesis and early [...] Read more.

Genome stability is an integral feature of all living organisms. Aneuploidy is the most common cause of fetal death in humans. The timing of bursts in increased aneuploidy frequency coincides with the waves of global epigenetic reprogramming in mammals. During gametogenesis and early embryogenesis, parental genomes undergo two waves of DNA methylation reprogramming. Failure of these processes can critically affect genome stability, including chromosome segregation during cell division. Abnormal methylation due to errors in the reprogramming process can potentially lead to aneuploidy. On the other hand, the presence of an entire additional chromosome, or chromosome loss, can affect the global genome methylation level. The associations of these two phenomena are well studied in the context of carcinogenesis, but here, we consider the relationship of DNA methylation and aneuploidy in early human and mammalian ontogenesis. In this review, we link these two phenomena and highlight the critical ontogenesis periods and genome regions that play a significant role in human reproduction and in the formation of pathological phenotypes in newborns with chromosomal aneuploidy. Full article

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

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