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At least 343 records · Page 19Linked to original sources
PubMed1992

Use of a dispersed repetitive DNA element to distinguish clinical isolates of Cryptococcus neoformans.

We isolated a recombinant phage from a Cryptococcus neoformans genomic library that contains a member of a dispersed family of repetitive DNA elements. This clone, CNRE-1, hybridized to at least seven chromosomes in C. neoformans on the basis of pulsed-field gel analysis. Hybridization of CNRE-1 to restriction digests of genomic DNA confirmed that there are multiple copies of this element and that restriction fragment length polymorphisms are present in strains from different serotypes of C. neoformans. The utility of this probe as an epidemiologic marker was determined by testing cryptococcal isolates from a single hospital. Five isolates from four patients were closely related to a serotype A reference strain, whereas five other isolates from four additional patients exhibited distinct patterns. In two patients, the isolates obtained during recurrent cryptococcal infections were identical to the original isolates.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Suicidal death of rat chloroleukaemia cells by activation of the long interspersed repetitive DNA element (L1Rn).

Rat chloroleukaemia cells, maintained in suspension culture in different media, show rapid exponential growth without cell loss. At about half of the maximal population density the long interspersed repetitive DNA element (L1Rn) is suddenly transcriptionally activated without any obvious exogenous reason. Population growth is then inhibited and, within about 24 h after reaching the maximal density, the population undergoes programmed death (apoptosis). Suicidal cell death is caused by sudden incorporation, apparently by retroposition via an RNA intermediate, of about 300,000 copies of the L1Rn element into random locations in the cell genome, thus creating lethal mutations. The preceding growth inhibition is associated with repression, to an undetectable level, of c-Ki-ras expression. Up to the point of massive L1Rn incorporation and cell death, all phenomena are quickly reversible by subculturing; medium change alone is not sufficient. Biological implications of these surprising findings are discussed.

Animals↗
PubMed2006

Specific hypermethylation of LINE-1 elements during abnormal overgrowth and differentiation of human placenta.

In human post-natal somatic cells, low global levels of DNA methylation have been associated with the hypomethylation of several repetitive elements, a feature that has been proposed to be a surrogate epigenetic marker. These data, mainly derived from the analysis of cancer cells, suggest a potential association between loss of cell-growth control and altered differentiation with hypomethylation of repetitive sequences. Partial hydatidiform moles (PHMs) can be used as an alternative model for investigating this association in a non-tumorigenic context. This gestational disease is characterized by abnormal overgrowth and differentiation of the placenta and spontaneous abortion. Here, we comprehensively analyse the DNA methylation of these trophoblastic tissues in both PHM and normal placenta at global and sequence-specific levels. Analysis of the global 5-methylcytosine content and immunohistochemistry indicate that PHM and normal placenta have identical global levels of DNA methylation. In contrast, bisulfite genomic sequencing shows that, whereas Alu, NBL2 and satellite 2 repetitive elements are equally methylated, LINE-1 sequences are hypermethylated in PHM tissues ( approximately 2-fold relative to normal placenta). Interestingly, altered demethylation is also found in triploid diandric embryos that originate from dispermic fertilization of an oocyte, a common event responsible for most PHMs. In conclusion, alterations of DNA methylation do not seem to be randomly distributed in PHM, as several repeated elements remain unaltered, whereas LINE-1 sequences are hypermethylated. In addition, our findings suggest that the hypomethylation of repetitive elements in cancer is directly linked to the neoplasic process and not a simple consequence of loss of growth control observed in most of the cancer cells.

Cell Differentiation↗
PubMed1999

Purification and preliminary characterization of a cardiac Kv1.5 repressor element binding factor.

We have previously demonstrated that the cell-specific expression of Kv1.5 promoter is regulated by a silencer (Kv1.5 repressor element; KRE) containing a dinucleotide-repetitive element, (GT)19(GA)1(CA) 15(GA)16. Electromobility gel shift assays (EMSAs) of KRE with GH3 nuclear extracts detected a unique DNA-protein complex, which was not detectable in Chinese hamster ovary or COS-7 cells. We further delineated KRE and determined that a 52-bp fragment that contained a (GT)10(GA)1(CA)10 dinucleotide-repetitive element was sufficient for silencer activity. EMSAs using nuclear extracts isolated from the heart and from GH3 cells demonstrated that the 52-bp element formed specific and identical gel shift effects. These complexes were not detectable in EMSA experiments with liver nuclear extracts. Magnetic DNA affinity purification and UV cross-linking experiments identified a 27-kDa KRE binding factor (KBF) in GH3 cell nuclear extracts. Purified KBF reacted specifically with double-stranded KRE, abolishing the formation of multimeric KRE-DNA complexes. Thus, the interaction between KRE and KBF may play an important role in regulating the GH3- and cardiac-specific expression of Kv1.5.

Animals↗
PubMed1999

Mosquito genomes: structure, organization, and evolution.

A great deal of information has been accumulated on chromosome numbers and heterochromatin distribution as well as on genome size and organization in the mosquito family Culicidae. A number of trends in genome evolution emerge when these data are reviewed in light of recent cladistic phylogenies of Culicidae and its sister families. Anophelinae have heteromorphic sex chromosomes and a small genome size, and repetitive elements are distributed in a long-period interspersion pattern. In contrast, Culicinae have homomorphic sex chromosomes, and repetitive DNA is organized in a short-period interspersion pattern. There has been a general increase in genome size during the evolution of culicine tribes. The organization of the ancestral culicid genome remains uncertain awaiting studies on genome organization in Chaoboridae-Corethrellidae taxa. The most parsimonious hypothesis for the evolution of sex chromosomes and genome organization in Culicidae would be that homomorphic sex chromosomes and a long-period interspersion pattern was ancestral in lineages leading to Toxorhynchitinae and Culcinae. Larger genomes developed in subsequent culicine lineages through accumulation of short-period interspersed repetitive elements. Heteromorphic sex chromosomes evolved early in the evolution of Anophelinae, and a long-period interspersion pattern was retained. The alternative scenario proposed by Rao and Rai (1987a) is that Culicidae arose from a chaoborid Mochlonyx-like ancestor with heteromorphic sex chromosomes and possibly short-period interspersion. This scenario would require the loss of heteromorphic sex chromosomes in the lineage leading to Toxorhynchitinae and Culicinae and the "shedding" of repetitive elements in the lineage leading to Anophelinae. Several interesting patterns have emerged from studies of C-banding, and the distribution of heterochromatin in Culicidae and phylogenies derived from these studies are supported by the modern cladistic analyses. Recent intensive multipoint linkage map studies suggest that recombination frequencies per genome have remained relatively constant over the course of culicid evolution such that Anophelinae, with a relatively small genome size, has a linkage map of similar size to Aedini. As a consequence, taxa in Anophelinae have higher amounts of recombination per haploid genome size than Culicinae. Although several key questions have yet to be addressed, the Culicidae remain one of the best-studied systems of genome evolution in animals.

Animals↗
PubMed1996

Rat cytomegalovirus has a unique immediate early gene enhancer.

The immediate early (IE) enhancer/promoter regions of human cytomegalovirus (HCMV), simian cytomegalovirus (SCMV), and murine cytomegalovirus (MCMV) share the following characteristics: (1) they demonstrate high-level transcriptional properties, (2) multiple repetitive elements are found throughout the enhancer region, and (3) consensus binding sites for cellular transcription factors are frequently located within the repetitive elements. Here we characterize the enhancer/promoter region of the major IE gene locus for rat cytomegalovirus (RCMV). The RCMV IE enhancer/promoter region is able to activate transcription at the same level as HCMV or MCMV IE enhancer/promoter regions. In contrast to HCMV, MCMV, and SCMV, the RCMV IE enhancer/promoter region is almost completely lacking in repetitive elements and the only recognized consensus binding sites for cellular transcription factors recognized by sequence are three CTF, two AP1, and one NF-kappa B binding sites. However, enhancing activity does not appear to be dependent on these individual sites in transient transfection experiments, but is additive across the enhancer region.

Animals↗
PubMed2005

Orthologous repeats and mammalian phylogenetic inference.

Determining phylogenetic relationships between species is a difficult problem, and many phylogenetic relationships remain unresolved, even among eutherian mammals. Repetitive elements provide excellent markers for phylogenetic analysis, because their mode of evolution is predominantly homoplasy-free and unidirectional. Historically, phylogenetic studies using repetitive elements have relied on biological methods such as PCR analysis, and computational inference is limited to a few isolated repeats. Here, we present a novel computational method for inferring phylogenetic relationships from partial sequence data using orthologous repeats. We apply our method to reconstructing the phylogeny of 28 mammals, using more than 1000 orthologous repeats obtained from sequence data available from the NISC Comparative Sequencing Program. The resulting phylogeny has robust bootstrap numbers, and broadly matches results from previous studies which were obtained using entirely different data and methods. In addition, we shed light on some of the debatable aspects of the phylogeny. With rapid expansion of available partial sequence data, computational analysis of repetitive elements holds great promise for the future of phylogenetic inference.

Animals↗
PubMed1990

Genomic organization of the transposable element Tdd-3 from Dictyostelium discoideum.

The transposable element Tdd-3 from D. discoideum has been described originally in 1984 (Poole and Firtel, 1984). Additional copies of this element were discovered in the course of a recent study on tRNA gene organization in D. discoideum. Five out of 24 independently isolated tRNA genes proved to be associated with Tdd-3 elements. The surprising observation that all the elements always occurred within the 3'-flanking sequences of the Dictyostelium tRNA genes suggested the possibility of a general position specific integration of Tdd-3 elements upon transposition. Therefore we isolated additional Tdd-3 elements from various genomic D. discoideum libraries in order to test this hypothesis. Several new Tdd-3 elements were found associated with various tRNA genes. Additionally we identified Tdd-3 elements organized in tandem array or in association with RED (Repetitive Element of Dictyostelium), another repetitive element recently identified by our laboratory. In all cases a B-box equivalent of the eukaryotic gene-internal RNA polymerase III promoter was identified upstream of all Tdd-3 elements.

Base Sequence↗
PubMed2002

Analysis of sequence upstream of the endogenous H19 gene reveals elements both essential and dispensable for imprinting.

Imprinting of the linked and oppositely expressed mouse H19 and Igf2 genes requires a 2-kb differentially methylated domain (DMD) that is located 2 kb upstream of H19. This element is postulated to function as a methylation-sensitive insulator. Here we test whether an additional sequence 5' of H19 is required for H19 and Igf2 imprinting. Because repetitive elements have been suggested to be important for genomic imprinting, the requirement of a G-rich repetitive element that is located immediately 3' to the DMD was first tested in two targeted deletions: a 2.9-kb deletion (Delta D MD Delta G) that removes the DMD and G-rich repeat and a 1.3-kb deletion (Delta G) removing only the latter. There are also four 21-bp GC-rich repetitive elements within the DMD that bind the insulator-associated CTCF (CCCTC-binding factor) protein and are implicated in mediating methylation-sensitive insulator activity. As three of the four repeats of the 2-kb DMD were deleted in the initial 1.6-kb Delta DMD allele, we analyzed a 3.8-kb targeted allele (Delta 3.8kb-5'H19), which deletes the entire DMD, to test the function of the fourth repeat. Comparative analysis of the 5' deletion alleles reveals that (i) the G-rich repeat element is dispensable for imprinting, (ii) the Delta DMD and Delta DMD Delta G alleles exhibit slightly more methylation upon paternal transmission, (iii) removal of the 5' CTCF site does not further perturb H19 and Igf2 imprinting, suggesting that one CTCF-binding site is insufficient to generate insulator activity in vivo, (iv) the DMD sequence is required for full activation of H19 and Igf2, and (v) deletion of the DMD disrupts H19 and Igf2 expression in a tissue-specific manner.

Alleles↗
PubMed1996

Transposon-like sequences at the TOX2 locus of the plant-pathogenic fungus Cochliobolus carbonum.

The ascomycete fungus Cochliobolus carbonum race 1 is pathogenic on certain genotypes of maize due to the production of HC-toxin, a host-specific cyclic peptide. HC-toxin production is controlled, at least in part, by a duplicated 22-kb region of DNA that is found only in toxin-producing isolates of the fungus. This 22-kb region of DNA is flanked by a repetitive element. We have sequenced the element and found an interrupted reading frame that would encode a product similar to transposases from the fungal transposons Fot1 of Fusarium oxysporum and Pot2 of Magnaporthe grisea. The individual element cloned from C. carbonum is likely to function neither in cis nor trans, as it had a nonsense mutation in frame and several substitutions in its terminal inverted repeats. However, similar elements in the C. carbonum genome may be active, as the putative transposase-encoding region hybridized to mRNA of the size predicted by the reading frame. The element was found in varying copy number in the genomes of all Cochliobolus spp. examined, giving a distinct fingerprint in each species and race tested. The sequence similarity of the C. carbonum repetitive element to other fungal transposons, along with its presence in multiple copies per genome, strongly suggest that the C. carbonum repetitive element is a member of the Fot1 family of fungal transposons.

Amino Acid Sequence↗
PubMed1982

Mutant immunoglobulin genes have repetitive DNA elements inserted into their intervening sequences.

The kappa light chain genes from two mutant hybridoma cell lines defective in kappa light chain synthesis were isolated and compared to the wild-type kappa light chain gene. In each case, the mutant kappa light chain genes were found to contain repetitive DNA elements in their intervening sequences that were not present in the intervening sequences of the wild-type kappa light chain gene. These elements were found to be related to the genes of intracisternal A particles. These results suggest that the decreased production of kappa light chain in the mutant cell lines is due to the presence of the intracisternal A particle-related genes.

Animals↗
PubMed1996

Trypanosoma cruzi rRNA genes: a repeated element from the non-transcribed spacer is locus specific.

To determine the occurrence of conserved domains of presumed functional selection, a genomic restriction analysis was carried out in the region surrounding a transcription start point (tsp) from the rRNA cistron in T. cruzi. The transcribed spacer was found highly conserved among several isolates, whereas at 146 bp upstream from the tsp a highly polymorphic pattern was evidenced with a probe that contains sequences of a repetitive element (172 bp). Both genomic and chromosomal hybridizations indicated the linkage of the repetitive element to coding regions of the rRNA cistron. This represents the first example of a repetitive element not interspersed throughout the genome of T. cruzi, and strongly suggests that a functional role is being selected.

Animals↗
PubMed1997

Aphidicolin-induced FRA3B breakpoints cluster in two distinct regions.

The common fragile site at chromosomal band 3p14.2 (FRA3B) is the most sensitive single site in the human genome to induced chromosomal lesions. This fragile site may predispose chromosome 3p to breakage that is commonly observed in lung, renal, and many other cancers. We previously used aphidicolin induction of FRA3B expression in a chromosome 3-only somatic cell hybrid to generate a series of hybrids with breakpoints in the 3p14.2 region. These breakpoints were localized to two distinct clusters, separated by 200 kb, that lie on either side of a region of frequent breakage within FRA3B as observed by FISH analysis. Seven proximal aphidicolin-induced breakpoints were localized at or near the end of a THE element. The THE-1 element is flanked by LINE and Alu repetitive elements. The eight distal aphidicolin-induced breakpoints clustered in a region capable of forming multiple hairpin-like structures. Thus repetitive elements and hairpin-like structures may be responsible for chromosome fragility in this region.

Aphidicolin↗
PubMed2003

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

Translocations and gross deletions are responsible for a significant proportion of both cancer and inherited disease. Although such gene rearrangements are nonuniformly distributed in the human genome, the underlying mutational mechanisms remain unclear. We have studied the potential involvement of various types of repetitive sequence elements in the formation of secondary structure intermediates between the single-stranded DNA ends that recombine during rearrangements. Complexity analysis was used to assess the potential of these ends to form secondary structures, the maximum decrease in complexity consequent to a gross rearrangement being used as an indicator of the type of repeat and the specific DNA ends involved. A total of 175 pairs of deletion/translocation breakpoint junction sequences available from the Gross Rearrangement Breakpoint Database [GRaBD; www.uwcm.ac.uk/uwcm/mg/grabd/grabd.html] were analyzed. Potential secondary structure was noted between the 5' flanking sequence of the first breakpoint and the 3' flanking sequence of the second breakpoint in 49% of rearrangements and between the 5' flanking sequence of the second breakpoint and the 3' flanking sequence of the first breakpoint in 36% of rearrangements. Inverted repeats, inversions of inverted repeats, and symmetric elements were found in association with gross rearrangements at approximately the same frequency. However, inverted repeats and inversions of inverted repeats accounted for the vast majority (83%) of deletions plus small insertions, symmetric elements for one-half of all antigen receptor-mediated translocations, while direct repeats appear only to be involved in mediating simple deletions. These findings extend our understanding of illegitimate recombination by highlighting the importance of secondary structure formation between single-stranded DNA ends at breakpoint junctions.

3' Flanking Region↗
PubMed2005

Inferences of evolutionary relationships from a population survey of LTR-retrotransposons and telomeric-associated sequences in the Saccharomyces sensu stricto complex.

The Saccharomyces sensu stricto complex consists of six closely related species and one natural hybrid. Intra- and inter- species variability in repetitive elements can help elucidate the population structure and evolution of these close relatives. The chromosome positions of several telomeric associated sequences (TASs) and LTR-retrotransposons have been determined, using PFGE, in 112 isolates. Most of the repetitive elements studied are found in multiple copies in each strain, although in some subpopulations these elements are present in low copy number or are absent. Hybridization patterns and copy numbers of the repetitive elements correlate with geographic distribution. These patterns may yield interesting clues as to the origins and evolution of some TASs and retrotransposons, e.g. we can infer that Y' originated on the left end of chromosome XIV. There is strong evidence for horizontal transfer of Ty2 between S. cerevisiae and S. mikatae. Ty1 and Ty5 are either lost easily or frequently horizontally transferred. We have also found some gross chromosomal rearrangements in isolates within species and a few new natural hybrids between species, indicating that these processes occur in the wild and are not limited to conditions of human influence. DNA sequences have been deposited with the EMBL/GenBank database under Accession Nos AJ632279-AJ632293.

Base Sequence↗
PubMed2005

Multilocus sequence typing and repetitive element-based polymerase chain reaction analysis of Neisseria meningitidis isolates in Brazil reveal the emergence of 11 new sequence types genetically related to the ST-32 and ST-41/44 complexes and high prevalence of strains related to hypervirulent lineages.

Eighty-four strains of Neisseria meningitidis isolated from patients with meningococcal disease in 4 states of Brazil were analyzed by multilocus sequence typing and repetitive element-based polymerase chain reaction (Rep-PCR). The majority of strains analyzed (82%) belonged to 4 hypervirulent lineages, and 11 of 20 new sequence type (STs) characterized were related to hypervirulent lineages. Sequences of fetA and porA genes were analyzed, and the majority were related to profiles present in the ST-32 complex/electrophoretic type (ET)-5 complex. Rep-PCR analysis showed a unique electrophoretic pattern among strains related to hypervirulent lineages. Considering that 81% of the strains were serogroup B and strains belonging to the ST-32/ET-5 complex are genetically related to the Cuban vaccine strain used in a mass vaccination from 1990 to 1994 in Brazil, we believe that this vaccine did not confer effective herd immunity even among the age group within the vaccine showed higher efficacy. Our results once more raise the question about which strains should be used in the development of a new vaccine against N. meningitidis serogroup B.

Bacterial Proteins↗
PubMed2005

The profile of repeat-associated histone lysine methylation states in the mouse epigenome.

Histone lysine methylation has been shown to index silenced chromatin regions at, for example, pericentric heterochromatin or of the inactive X chromosome. Here, we examined the distribution of repressive histone lysine methylation states over the entire family of DNA repeats in the mouse genome. Using chromatin immunoprecipitation in a cluster analysis representing repetitive elements, our data demonstrate the selective enrichment of distinct H3-K9, H3-K27 and H4-K20 methylation marks across tandem repeats (e.g. major and minor satellites), DNA transposons, retrotransposons, long interspersed nucleotide elements and short interspersed nucleotide elements. Tandem repeats, but not the other repetitive elements, give rise to double-stranded (ds) RNAs that are further elevated in embryonic stem (ES) cells lacking the H3-K9-specific Suv39h histone methyltransferases. Importantly, although H3-K9 tri- and H4-K20 trimethylation appear stable at the satellite repeats, many of the other repeat-associated repressive marks vary in chromatin of differentiated ES cells or of embryonic trophoblasts and fibroblasts. Our data define a profile of repressive histone lysine methylation states for the repetitive complement of four distinct mouse epigenomes and suggest tandem repeats and dsRNA as primary triggers for more stable chromatin imprints.

Animals↗
PubMed2000

The size difference between leishmania major friedlin chromosome one homologues is localized to sub-telomeric repeats at one chromosomal end.

Leishmania species are members of the evolutionarily ancient protozoan order Kinetoplastidae and are important human pathogens. The Leishmania genome is relatively small (approximately 34 Mbp) and is distributed among 36 chromosome pairs, ranging in size from 0.3 to 2.5 Mbp. The smallest chromosome of Leishmania major Friedlin, chrl, consists of three homologues which differ in size by approximately 29 kb. Previous sequence and Southern analyses of all three homologues reveal a conserved chromosomal core, consisting of coding and adjacent 'non-informational' sequence. Here we show the size difference between homologues is largely restricted to variation in both the number and content of several sub-telomeric repetitive elements localized on one chromosomal end. These repetitive elements also occur on other chromosomes, but some are more dispersed in the Leishmania genome than others.

Animals↗