Distribution of Interstitial Telomeric Sequences in Primates and the Pygmy Tree Shrew (Scandentia)

2017 ◽  
Vol 151 (3) ◽  
pp. 141-150 ◽  
Author(s):  
Sofia Mazzoleni ◽  
Odessa Schillaci ◽  
Luca Sineo ◽  
Francesca Dumas
Keyword(s):  
Dna Sequences ◽  
Tree Shrew ◽  
Chromosomal Rearrangements ◽  
Primate Species ◽  
Telomeric Dna ◽  
Erythrocebus Patas ◽  
Telomeric Sequences ◽  
Interstitial Telomeric Sequences ◽  
Cercopithecus Petaurista ◽  
Almost All

It has been hypothesized that interstitial telomeric sequences (ITSs), i.e., repeated telomeric DNA sequences found at intrachromosomal sites in many vertebrates, could be correlated to chromosomal rearrangements and plasticity. To test this hypothesis, we hybridized a telomeric PNA probe through FISH on representative species of 2 primate infraorders, Strepsirrhini (Lemur catta, Otolemur garnettii, Nycticebus coucang) and Catarrhini (Erythrocebus patas, Cercopithecus petaurista, Chlorocebus aethiops, Colobus guereza), as well as on 1 species of the order Scandentia, Tupaia minor, used as an outgroup for primates in phylogenetic reconstructions. In almost all primate species analyzed, we found a telomeric pattern only. In Tupaia, the hybridization revealed many bright ITSs on at least 11 chromosome pairs, both biarmed and acrocentric. These ITS signals in Tupaia correspond to fusion points of ancestral human syntenic associations, but are also present in other chromosomes showing synteny to only a single human chromosome. This distribution pattern was compared to that of the heterochromatin regions detected through sequential C-banding performed after FISH. Our results in the analyzed species, compared with literature data on ITSs in primates, allowed us to discuss different mechanisms responsible for the origin and distribution of ITSs, supporting the correlation between rearrangements and ITSs.

scholarly journals At the Beginning of the End and in the Middle of the Beginning: Structure and Maintenance of Telomeric DNA Repeats and Interstitial Telomeric Sequences

Genes ◽  
2019 ◽  
Vol 10 (2) ◽  
pp. 118 ◽  
Author(s):  
Anna Y. Aksenova ◽  
Sergei M. Mirkin
Keyword(s):  
Genome Stability ◽  
Dynamic Properties ◽  
Chromosomal Rearrangements ◽  
Dna Repeats ◽  
Telomeric Dna ◽  
Telomeric Sequences ◽  
Gross Chromosomal Rearrangements ◽  
Interstitial Telomeric Sequences ◽  
Chromosomal Fragility ◽  
Living Organisms

Tandem DNA repeats derived from the ancestral (TTAGGG)n run were first detected at chromosome ends of the majority of living organisms, hence the name telomeric DNA repeats. Subsequently, it has become clear that telomeric motifs are also present within chromosomes, and they were suitably called interstitial telomeric sequences (ITSs). It is well known that telomeric DNA repeats play a key role in chromosome stability, preventing end-to-end fusions and precluding the recurrent DNA loss during replication. Recent data suggest that ITSs are also important genomic elements as they confer its karyotype plasticity. In fact, ITSs appeared to be among the most unstable microsatellite sequences as they are highly length polymorphic and can trigger chromosomal fragility and gross chromosomal rearrangements. Importantly, mechanisms responsible for their instability appear to be similar to the mechanisms that maintain the length of genuine telomeres. This review compares the mechanisms of maintenance and dynamic properties of telomeric repeats and ITSs and discusses the implications of these dynamics on genome stability.

scholarly journals Telomeric DNA sequences in beetle taxa vary with species richness

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Daniela Prušáková ◽  
Vratislav Peska ◽  
Stano Pekár ◽  
Michal Bubeník ◽  
Lukáš Čížek ◽  
...  
Keyword(s):  
Species Richness ◽  
Dna Sequences ◽  
Genome Instability ◽  
Telomeric Sequence ◽  
Dna Repeats ◽  
Telomeric Dna ◽  
Common Pattern ◽  
Telomeric Sequences ◽  
Genomic Changes ◽  
Protective Structures

AbstractTelomeres are protective structures at the ends of eukaryotic chromosomes, and disruption of their nucleoprotein composition usually results in genome instability and cell death. Telomeric DNA sequences have generally been found to be exceptionally conserved in evolution, and the most common pattern of telomeric sequences across eukaryotes is (TxAyGz)n maintained by telomerase. However, telomerase-added DNA repeats in some insect taxa frequently vary, show unusual features, and can even be absent. It has been speculated about factors that might allow frequent changes in telomere composition in Insecta. Coleoptera (beetles) is the largest of all insect orders and based on previously available data, it seemed that the telomeric sequence of beetles varies to a great extent. We performed an extensive mapping of the (TTAGG)n sequence, the ancestral telomeric sequence in Insects, across the main branches of Coleoptera. Our study indicates that the (TTAGG)n sequence has been repeatedly or completely lost in more than half of the tested beetle superfamilies. Although the exact telomeric motif in most of the (TTAGG)n-negative beetles is unknown, we found that the (TTAGG)n sequence has been replaced by two alternative telomeric motifs, the (TCAGG)n and (TTAGGG)n, in at least three superfamilies of Coleoptera. The diversity of the telomeric motifs was positively related to the species richness of taxa, regardless of the age of the taxa. The presence/absence of the (TTAGG)n sequence highly varied within the Curculionoidea, Chrysomeloidea, and Staphylinoidea, which are the three most diverse superfamilies within Metazoa. Our data supports the hypothesis that telomere dysfunctions can initiate rapid genomic changes that lead to reproductive isolation and speciation.

Characterization of two telomeric DNA processing reactions in Saccharomyces cerevisiae

1988 ◽  
Vol 8 (11) ◽  
pp. 4642-4650
Author(s):  
A W Murray ◽  
T E Claus ◽  
J W Szostak
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Cell Division ◽  
Dna Polymerase ◽  
Dna Sequences ◽  
Inverted Repeat ◽  
Telomeric Sequence ◽  
Telomeric Dna ◽  
Telomeric Sequences ◽  
Telomere Elongation

We have investigated two reactions that occur on telomeric sequences introduced into Saccharomyces cerevisiae cells by transformation. The elongation reaction added repeats of the yeast telomeric sequence C1-3A to telomeric sequences at the end of linear DNA molecules. The reaction worked on the Tetrahymena telomeric sequence C4A2 and also on the simple repeat CA. The reaction was orientation specific: it occurred only when the GT-rich strand ran 5' to 3' towards the end of the molecule. Telomere elongation occurred by non-template-directed DNA synthesis rather than any type of recombination with chromosomal telomeres, because C1-3A repeats could be added to unrelated DNA sequences between the CA-rich repeats and the terminus of the transforming DNA. The elongation reaction was very efficient, and we believe that it was responsible for maintaining an average telomere length despite incomplete replication by template-directed DNA polymerase. The resolution reaction processed a head-to-head inverted repeat of telomeric sequences into two new telomeres at a frequency of 10(-2) per cell division.

scholarly journals Characterization of two telomeric DNA processing reactions in Saccharomyces cerevisiae.

1988 ◽  
Vol 8 (11) ◽  
pp. 4642-4650 ◽  
Author(s):  
A W Murray ◽  
T E Claus ◽  
J W Szostak
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Cell Division ◽  
Dna Polymerase ◽  
Dna Sequences ◽  
Inverted Repeat ◽  
Telomeric Sequence ◽  
Telomeric Dna ◽  
Telomeric Sequences ◽  
Telomere Elongation

We have investigated two reactions that occur on telomeric sequences introduced into Saccharomyces cerevisiae cells by transformation. The elongation reaction added repeats of the yeast telomeric sequence C1-3A to telomeric sequences at the end of linear DNA molecules. The reaction worked on the Tetrahymena telomeric sequence C4A2 and also on the simple repeat CA. The reaction was orientation specific: it occurred only when the GT-rich strand ran 5' to 3' towards the end of the molecule. Telomere elongation occurred by non-template-directed DNA synthesis rather than any type of recombination with chromosomal telomeres, because C1-3A repeats could be added to unrelated DNA sequences between the CA-rich repeats and the terminus of the transforming DNA. The elongation reaction was very efficient, and we believe that it was responsible for maintaining an average telomere length despite incomplete replication by template-directed DNA polymerase. The resolution reaction processed a head-to-head inverted repeat of telomeric sequences into two new telomeres at a frequency of 10(-2) per cell division.

Chromosomal Localization of 18S-28S rDNA and (TTAGGG)n Sequences in Two South African Dormice of the Genus Graphiurus (Rodentia: Gliridae)

2019 ◽  
Vol 158 (3) ◽  
pp. 145-151 ◽  
Author(s):  
Vanessa Milioto ◽  
Sara Vlah ◽  
Sofia Mazzoleni ◽  
Michail Rovatsos ◽  
Francesca Dumas
Keyword(s):  
South African ◽  
Evolutionary Dynamics ◽  
Repetitive Sequences ◽  
Nucleolus Organizer ◽  
28S Rdna ◽  
Telomeric Sequences ◽  
Nucleolus Organizer Regions ◽  
Interstitial Telomeric Sequences ◽  
Almost All

Classical cytogenetics and mapping of 18S-28S rDNA and (TTAGGG)n sequences by fluorescence in situ hybridization (FISH) was performed on Graphiurus platyops (GPL) and Graphiurus ocularis (GOC) metaphases with the aim to characterize the genomes. In both species, inverted DAPI karyotypes showed the same diploid number, 2n = 46, and hybridization of the (TTAGGG)n probe revealed interstitial telomeric sequences (ITSs) at the centromeres of almost all bi-armed chromosomes. FISH with the rDNA probe localized nucleolus organizer regions (NORs), at the terminal ends of the p arms of the subtelocentric pairs 16 and 17 in both species and detected additional signals on GPL8 and GOC18, 19, and 22. The species have similar karyotypes, but their chromosome pairs 18-22 differ in morphology; these are acrocentric in G. platyops, as also confirmed by C-banding, and subtelocentric in G. ocularis. These differences in pairs 18-22 were also highlighted by hybridization of the telomeric probe (TTAGGG)n, which showed the small p arms in G. ocularis enriched with ITSs. FISH of rDNA probes detected multiple NOR loci in G. ocularis, underlining the intense evolutionary dynamics related to these genes. Although the Graphiurus species analyzed have similar karyotypes, the results on the repetitive sequences indicate a complex pattern of genomic reorganization and evolution occurring in these phylogenetically close species.

scholarly journals Chromosome Banding in Amphibia. XXXIV. Intrachromosomal Telomeric DNA Sequences in Anura

2016 ◽  
Vol 148 (2-3) ◽  
pp. 211-226 ◽  
Author(s):  
Michael Schmid ◽  
Claus Steinlein
Keyword(s):  
Dna Sequences ◽  
Distribution Patterns ◽  
Detailed Comparison ◽  
Telomeric Dna ◽  
Mitotic Chromosomes ◽  
Telomeric Sequences ◽  
Anuran Species ◽  
Specific Distribution ◽  
Large Clusters ◽  
Chromosome Regions

The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)n repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present results with numerous published and unpublished data allowed a consistent classification of the various categories of large ITSs present in the genomes of anurans and other vertebrates. The classification takes into consideration the total numbers of large ITSs in the karyotypes, their chromosomal locations and their specific distribution patterns. A new category of large ITSs was recognized to exist in anuran species. It consists of large clusters of ITSs located in euchromatic chromosome segments, which is in clear contrast to the large ITSs in heterochromatic chromosome regions known in vertebrates. The origin of the different categories of large ITSs in heterochromatic and euchromatic chromosome regions, their mode of distribution in the karyotypes and evolutionary fixation in the genomes, as well as their cytological detection are discussed.

scholarly journals TRF1 and TRF2 use different mechanisms to find telomeric DNA but share a novel mechanism to search for protein partners at telomeres

2013 ◽  
Vol 42 (4) ◽  
pp. 2493-2504 ◽  
Author(s):  
Jiangguo Lin ◽  
Preston Countryman ◽  
Noah Buncher ◽  
Parminder Kaur ◽  
Longjiang E ◽  
...  
Keyword(s):  
Single Molecule ◽  
Dna Sequences ◽  
Specific Binding ◽  
General Mechanism ◽  
Telomeric Dna ◽  
External Energy ◽  
Telomeric Sequences ◽  
Shelterin Complex ◽  
Protein Partners ◽  
A Genome

Abstract Human telomeres are maintained by the shelterin protein complex in which TRF1 and TRF2 bind directly to duplex telomeric DNA. How these proteins find telomeric sequences among a genome of billions of base pairs and how they find protein partners to form the shelterin complex remains uncertain. Using single-molecule fluorescence imaging of quantum dot-labeled TRF1 and TRF2, we study how these proteins locate TTAGGG repeats on DNA tightropes. By virtue of its basic domain TRF2 performs an extensive 1D search on nontelomeric DNA, whereas TRF1’s 1D search is limited. Unlike the stable and static associations observed for other proteins at specific binding sites, TRF proteins possess reduced binding stability marked by transient binding (∼9–17 s) and slow 1D diffusion on specific telomeric regions. These slow diffusion constants yield activation energy barriers to sliding ∼2.8–3.6 κBT greater than those for nontelomeric DNA. We propose that the TRF proteins use 1D sliding to find protein partners and assemble the shelterin complex, which in turn stabilizes the interaction with specific telomeric DNA. This ‘tag-team proofreading’ represents a more general mechanism to ensure a specific set of proteins interact with each other on long repetitive specific DNA sequences without requiring external energy sources.

Extensive Amplification of Telomeric Repeats in the Karyotypically Highly Diverse African Pygmy Mice

2017 ◽  
Vol 152 (2) ◽  
pp. 55-64 ◽  
Author(s):  
Victor Colomina ◽  
Josette Catalan ◽  
Janice Britton-Davidian ◽  
Frédéric Veyrunes
Keyword(s):  
Mammalian Species ◽  
Chromosomal Rearrangements ◽  
Replication Timing ◽  
Pericentromeric Region ◽  
Chromosomal Evolution ◽  
Telomeric Repeats ◽  
Telomeric Sequences ◽  
Interstitial Telomeric Sequences ◽  
Karyotypic Diversity ◽  
The One

Telomeres are ribonucleoprotein structures protecting the physical ends of eukaryotic chromosomes. However, telomeric sequences can also occur at non-terminal regions of chromosomes, forming the so-called interstitial telomeric sequences (ITSs). Some ITSs are considered as relics of past chromosomal rearrangements and as such provide important insights into karyotype evolution. By FISH, we explored the distribution of telomeric motifs in the genome of a complex of mammalian species that has long been recognized for its extraordinary karyotypic diversity: the African pygmy mice. This survey involved 5 species, representing 10 highly diverse karyotypes with or without autosomal and sex-autosome robertsonian (Rb) fusions. The study revealed that in species with an ancestral-like karyotype (i.e., no fusions; Mus mattheyi and M. indutus), only terminal telomeres were observed, whereas in species experiencing intense chromosomal evolution (e.g., M. minutoides, M. musculoides), a large amplification of telomeric repeats was also identified in the pericentromeric region of acrocentrics and most metacentrics. We concluded that (i) the mechanism of Rb fusion in the African pygmy mice is different than the one highlighted in the house mouse; (ii) the intensity of the ITS hybridization signal could be a signature of the age of formation of the Rb fusion; (iii) the large amplification of pericentromeric telomeric sequences in acrocentrics may mediate the formation of Rb fusions, and (iv) the ITSs on the sex-autosome fusion Rb(X.1) may participate to the insulation buffer between the sexual and autosomal arms to prevent X inactivation from spreading and silencing autosomal genes and allow the independent regulation of replication timing of both segments.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

2019 ◽  
Vol 159 (4) ◽  
pp. 201-207
Author(s):  
Marion Beaumont ◽  
Elena J. Tucker ◽  
Laura Mary ◽  
Erika Launay ◽  
Yann Lurton ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Chromosomal Rearrangements ◽  
Chromosomal Anomalies ◽  
Derivative Chromosome ◽  
Telomeric Sequences ◽  
Dicentric Chromosomes ◽  
Interstitial Telomeric Sequences ◽  
Cytogenetic Analyses ◽  
Reproductive Phenotype

Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies (related to the Y chromosome or to the autosomes) are validated genetic factors leading to spermatogenic quantitative defects with a frequency depending on the severity of the phenotype. The most frequent structural chromosomal rearrangements of autosomes are translocations and inversions, whereas dicentric chromosomes involving autosomes are rare. We report a man bearing a pseudodicentric chromosome (9;21) and presenting with oligozoospermia. Extensive cytogenetic analyses were necessary to determine the precise nature of the derivative chromosome and to discount the presence of interstitial telomeric sequences. Defects in spermatogenesis and abnormal segregation at meiosis for existing spermatozoa are proposed and are the likely cause of the reproductive phenotype of the patient.

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