Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)<sub>n</sub>

Weber, Bernhard H. F.; Robbins, Carolyn; Magenis, R. Ellen; Delaney, Allen; Gray, Joe W.; Hayden, Michael R.

doi:10.1093/nar/18.11.3353

Cited by 50 publications

(30 citation statements)

References 30 publications

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“…Relatively stable telomere repeat sequences are found at many locations within the human genome (49). In cell line KB319, the telomere repeat sequences located at one end of the integrated plasmid were relatively stable, whereas those at the other end were at the site of a chromosome break.…”

Section: Resultsmentioning

confidence: 99%

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Murnane

1993

Mol. Cell. Biol.

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Previous analysis of plasmid DNA transfected into 108 cell clones demonstrated extensive polymorphism near the integration site in one clone. This polymorphism was apparent by Southern blot analysis as diffuse bands that extended over 30 kb. In the present study, nucleotide sequence analysis of cloned DNA from the integration site revealed telomere repeat sequences at the ends of the integrated plasmid DNA. The telomere repeat sequences at one end were located at the junction between the plasmid and cell DNA. The telomere repeat sequences at the other end were located in the opposite orientation in the polymorphic region and were shown by digestion with BAL 31 to be at the end of the chromosome. Telomere repeat sequences were not found at this location in the plasmid or parent cell DNA. Although the repeat sequences may have been acquired by recombination, a more likely explanation is that they were added to the ends of the plasmid by telomerase before integration. Comparison of the cell DNA before and after integration revealed that a chromosome break had occurred at the integration site, which was shown by fluorescent in situ hybridization to be located near the telomere of chromosome 13. These results demonstrate that chromosome breakage and rearrangement can result in interstitial telomere repeat sequences within the human genome. These sequences could promote genomic instability, because short repeat sequences can be recombinational hotspots. The results also show that

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Section: Resultsmentioning

confidence: 99%

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Murnane

1993

Mol. Cell. Biol.

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“…The repeats are smaller, 0.3 kb; they are near, 21 to 80 bp, but not precisely at the genomic termini; and the G-rich strand at the 3' end is the imperfect array of repeats (the het region which we have shown at the end of the genome) not the perfect 58 copies array. However, variants of the simple telomeric repeat have been observed in the terminal array of host chromosomes (Weber et al, 1990) as in the HHV-6 imperfect telomeric array. Some of the concatemeric clones indicate that DNA cleavage may occur closer to the telomeric repeats, the closest being clone mconcat 105, which has a concatemeric junction only 21 bp from tandem telomeric repeats (Fig.…”

Section: Short Communicationmentioning

confidence: 99%

“…Both proteins are members of the SR family of splicing factors and the alignments favour these residues; SJRF2 additionally has two consensus sequences for phosphorylation of these splicing factor phosphoproteins (S/T*-P-X-R/K at TPRR and TPTR) (Gui et al, 1994). Using the TFASTA program to translate nucleotide sequences in the databases and then make amino acid sequence comparisons, SJLF1 shows most similarity with potential sequences also encoded by human telomeric repeats and associated sequences which are similar in organization to this region (Brown et al, 1990;Weber et al, 1990).…”

mentioning

confidence: 99%

Characterization of human telomeric repeat sequences from human herpesvirus 6 and relationship to replication

1995

Journal of General Virology

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Here we examine by polymerase chain reaction amplification followed by cloning and sequence analyses selected regions of the human herpesvirus 6 (HHV-6) genome which contain human telomeric repeats (TTA-GGG). We determine the relative number, arrangement and orientation of the repeats in the unit length genome, in concatemeric replicative intermediates and in heterogeneous (het) regions. We also examine distribution of the repeats in the entire genome (159 kb) and their orientation relative to DNA packaging motifs and the origin of lytic replication. In the prototype orientation the HHV-6 repeat is the related complement, TAACCC. We show that tandem arrays of this repeat are present in the right and left long direct repeats (DR L and DR R, 8 kb each) which bound the long unique sequence (U L, 143 kb). Within each DR there is a left terminal imperfect tandem array and a right terminal perfect tandem array (58 copies). In DR they are each adjacent to DNA packaging motifs, pacl and pac2, described for herpes simplex virus and human cytomegalovirus, in the arrangement pacl-imperfect repeat-7.2 kb-perfect repeat-pac2. Five independent clones were isolated and sequence determined from junctions of concatemeric replicative intermediates which showed adjacent pac2 and pacl motifs surrounded by telomeric repeats. Favoured cleavage sites for unit length genomes were indicated which avoided cleavage within the repeats. Analyses of the complete genome showed no tandem repeats within U L but did show a polar distribution of monomeric copies and related sequences around the origin of replication, with an effect on the overall base composition. The implications for virus replication are discussed.Human herpesvirus 6 (HHV-6) is one of the most recently characterized of the family of seven human herpesviruses. Like other herpesviruses it can establish a latent or persistent infection which remains for the lifetime of the host and can reactivate during immunosuppression. HHV-6 infects up to 90 % of the population as infants where infection is asymptomatic or causes exanthem subitum, a mild skin rash (Yamanishi et al., 1988;Okuno et al., 1989). The virus has a cellular tropism for CD4 + T lymphocytes and there is evidence for the monocyte as a possible site for latency. HHV-6 strains were first isolated from blood samples from AIDS patients where the virus had reactivated (Salahuddin et al., 1986;Downing et al., 1987). Given the similar cellular tropisms of human immunodeficiency virus

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“…Chromosomal regions immediately adjacent to telomeres often contain other repetitive sequences, which vary in their degree of repetitiveness (Brown et al, 1990;Cross et al, 1990;Weber et al, 1990). Because of the repetitive nature of these components, the telomere regions of humans are considered likely to form constitutive heterochromatin.…”

Section: Introductionmentioning

confidence: 99%

Repetitive sequences originating from the centromere constitute large-scale heterochromatin in the telomere region in the siamang, a small ape

et al. 2012

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Chromosomes of the siamang Symphalangus syndactylus (a small ape) carry large-scale heterochromatic structures at their ends. These structures look similar, by chromosome C-banding, to chromosome-end heterochromatin found in chimpanzee, bonobo and gorilla (African great apes), of which a major component is tandem repeats of 32-bp-long, AT-rich units. In the present study, we identified repetitive sequences that are a major component of the siamang heterochromatin. Their repeat units are 171 bp in length, and exhibit sequence similarity to alpha satellite DNA, a major component of the centromeres in primates. Thus, the large-scale heterochromatic structures have different origins between the great apes and the small ape. The presence of alpha satellite DNA in the telomere region has previously been reported in the white-cheeked gibbon Nomascus leucogenys, another small ape species. There is, however, a difference in the size of the telomere-region alpha satellite DNA, which is far larger in the siamang. It is not known whether the sequences of these two species (of different genera) have a common origin because the phylogenetic relationship of genera within the small ape family is still not clear. Possible evolutionary scenarios are discussed.

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Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)_n

Cited by 50 publications

References 30 publications

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Characterization of human telomeric repeat sequences from human herpesvirus 6 and relationship to replication

Repetitive sequences originating from the centromere constitute large-scale heterochromatin in the telomere region in the siamang, a small ape

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Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n

Cited by 50 publications

References 30 publications

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break.

Characterization of human telomeric repeat sequences from human herpesvirus 6 and relationship to replication

Repetitive sequences originating from the centromere constitute large-scale heterochromatin in the telomere region in the siamang, a small ape

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Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)_n