A Sequence-Ready Map of the Human Chromosome 17p Telomere

Xiang, Zheng; Hu, Xue-Lan; Flint, Jonathan; Riethman, Harold

doi:10.1006/geno.1999.5826

Cited by 8 publications

(5 citation statements)

References 32 publications

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“…In comparison, in sperm DNA, this sequence is completely devoid of methylation, as has been previously observed (Brock et al 1999). Probe 17tel49, which recognizes a region approximately 35 kb proximal to telomere 17p (Xiang et al 1999), overlapping the region tested for R+S timing, showed similar full methylation in cord blood DNA and early passage fibroblasts, in comparison with a lack of methylation in sperm DNA (Fig. 3b).…”

Section: Methylation Of Subtelomeric Regions In Sperm and Cord Blood Dnasupporting

confidence: 79%

“…The distances of these probes from the telomeric repeat region are between 100 and 300 kb, and therefore their hybridization intensity is not affected by age-related telomeric attrition. For four of the cosmids a more precise location relative to the chromosomal end is known: 4q (cosmid cT55), <200 kb, based on interphase FISH (Lese et al 1999); 11p (cosmid 2209a2), maximum 125 kb (http//:www.wistar.upenn.edu/Riethman/telomeres/t11p/t11pseq.html); 16p (cosmid CGG4), ~100 kb (Flint et al 1997); and 17p (cosmid 2111b1), maximum 96 kb (Xiang et al 1999). Cosmid probes for non-telomeric regions are described elsewhere [cJ21 from the CFTR gene locus and CL15 from the muscle glycogen phosphorylase (PYGM) locus (Selig et al 1992) and HG4 from the β-globin locus (Kitsberg et al 1993)].…”

Section: Methodsmentioning

confidence: 99%

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Replication and/or separation of some human telomeres is delayed beyond S-phase in pre-senescent cells

et al. 2002

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Cultured primary human cells, which lack telomerase, enter a state of replicative senescence after a characteristic number of population doublings. During this process telomeres shorten to a critical length of approximately 5-7 kb. The mechanistic relationship between advanced cell passage, cellular senescence and telomeric function has yet to be fully elucidated. In the study described here, we investigated the relationship between changes in telomeric replication timing and/or sister chromatid separation at telomeric regions and advanced cell passage. Using fluorescence in situ hybridization, we analyzed the appearance of double hybridization signals (doublets), which indicate that the region of interest has replicated and the replicated products have separated sufficiently to be resolved as two distinct signals. The results showed that the replication and separation of several telomeric regions occurs during the second half of S-phase and that a delay in replication and/or separation of sister chromatids at these regions occurs in pre-senescent human fibroblasts. Surprisingly, in a significant percentage of pre-senescent cells, several telomeric regions did not hybridize as doublets even in metaphase chromosomes. This delay was not associated with extensive changes in methylation levels at subtelomeric regions and was circumvented in human fibroblasts expressing ectopic telomerase. We propose that incomplete replication and/or separation of telomeric regions in metaphase may be associated with proliferative arrest of senescent cells. This cell growth arrest may result from the activation of a mitotic checkpoint, or from chromosomal instability consequent to progression in the cell cycle despite failure to replicate and/or separate these regions completely.

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Section: Methylation Of Subtelomeric Regions In Sperm and Cord Blood Dnasupporting

confidence: 79%

Section: Methodsmentioning

confidence: 99%

Replication and/or separation of some human telomeres is delayed beyond S-phase in pre-senescent cells

et al. 2002

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“…Genomes labeled with the DLE enzyme showed large differences between mapping patterns for 17p compared with the HG38 reference and further characterization will be needed to accurately classify this arm. Previous 17p subtelomere mapping and sequencing studies showed several discrete large tandem repeat regions within 100 kb of the chromosome end based upon a telomere-containing half-YAC as well as large variations detected by RARE cleavage [30,38]. Both 17p features may be contributing to difficulties characterizing this subtelomere in the population.…”

Section: Discovery Of Novel Subtelomeric Structural Variants Resolutmentioning

confidence: 94%

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

et al. 2020

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Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. Based upon these trends we estimate a timeline for the spread of these duplication blocks.

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“…The discovery that telomeres from human chromosomes can be cloned by functional complementation in yeast enabled the molecular characterization of subtelomeric repetitive and chromosome unique DNA (Brown et al 1989;Cross et al 1989;Riethman et al 1989;Bates et al 1990). When yeast artificial chromosome (YAC) vectors with only one functional telomere are ligated to human genomic DNA, clones survive in the yeast host cells if they are stabilized by the presence of a second telomere derived from the human genomic DNA ("half-YACs") (Xiang et al 1999). Characterization of half-YAC libraries produced in this way has resulted in the development of a valuable set of molecular resources for analyzing most, if not all, chromosome ends (National Institutes of Health et al 1996;Rosenberg et al 1997).…”

Section: Introductionmentioning

confidence: 99%

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

Knight

Lese

Precht

et al. 2000

The American Journal of Human Genetics

288

220

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Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a known distance from the end of the chromosome ( approximately 300 kb), and 7 clones corresponding to the most distal markers on the integrated genetic/physical map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified. For each clone we give an associated mapped sequence-tagged site and provide distances from the telomere estimated using a combination of fiberFISH, interphase FISH, sequence analysis, and radiation-hybrid mapping. This updated set of telomeric clones is an invaluable resource for clinical diagnosis and represents an important contribution to genetic and physical mapping efforts aimed at telomeric regions.

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A Sequence-Ready Map of the Human Chromosome 17p Telomere

Cited by 8 publications

References 32 publications

Replication and/or separation of some human telomeres is delayed beyond S-phase in pre-senescent cells

Replication and/or separation of some human telomeres is delayed beyond S-phase in pre-senescent cells

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

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