Human subtelomeric duplicon structure and organization

Ambrosini, Anthony E.; Paul, Sheila; Hu, Sufen; Riethman, Harold

doi:10.1186/gb-2007-8-7-r151

Cited by 57 publications

(76 citation statements)

References 51 publications

(81 reference statements)

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“…The concurrence of a normal cell line along with the double set of (sub)telomeric sequences indicates that the present direct duplication most likely arose in a 46,XX zygote via an interchromosomal or interchromatid nonallelic recombination between a low-copy repeat or duplicon located in 15q24 [30,31] and telomeric 15q sequences.…”

Section: Discussionmentioning

confidence: 80%

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A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

et al. 2010

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Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno-and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup (15) The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences. (Korean J Lab Med 2010;30:318-24)

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Section: Discussionmentioning

confidence: 80%

“…Indeed, considering the occurrence of internal (TTAGGG)n sequences at duplicon boundaries, such a recombination may be a homologous one [31]. Otherwise, chromosome 15p heteromorphisms would imply that a paternal chromosome was involved in the duplication.…”

Section: Discussionmentioning

confidence: 99%

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

et al. 2010

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“…In humans, three classes of ITSs were identified [15]: (i) subtelomeric ITSs, located within subtelomeric domains and composed of extended arrays (usually several hundreds of base pairs), including many degenerate units; they probably arose from recombination events involving chromosome termini [16]; (ii) short internal ITSs, located away from telomeres and composed of relatively few TTAGGG units; these ITSs are likely to have been generated during the repair of DNA double-strand breaks that occurred during evolution [17]; (iii) one fusion ITS, located in 2q14, derived from the end fusion between the two ancestral chromosomes that gave rise to human chromosome 2 [18]. No clear indication of any particular function of ITSs has been provided so far.…”

Section: Thomas Simonet Et Al 1029mentioning

confidence: 99%

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

Simonet¹,

Zaragosi²,

Philippe³

et al. 2011

Cell Res

138

146

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The study of the proteins that bind to telomeric DNA in mammals has provided a deep understanding of the mechanisms involved in chromosome-end protection. However, very little is known on the binding of these proteins to nontelomeric DNA sequences. The TTAGGG DNA repeat proteins 1 and 2 (TRF1 and TRF2) bind to mammalian telomeres as part of the shelterin complex and are essential for maintaining chromosome end stability. In this study, we combined chromatin immunoprecipitation with high-throughput sequencing to map at high sensitivity and resolution the human chromosomal sites to which TRF1 and TRF2 bind. While most of the identified sequences correspond to telomeric regions, we showed that these two proteins also bind to extratelomeric sites. The vast majority of these extratelomeric sites contains interstitial telomeric sequences (or ITSs). However, we also identified non-ITS sites, which correspond to centromeric and pericentromeric satellite DNA. Interestingly, the TRF-binding sites are often located in the proximity of genes or within introns. We propose that TRF1 and TRF2 couple the functional state of telomeres to the long-range organization of chromosomes and gene regulation networks by binding to extratelomeric sequences.

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“…10,11 MSP was performed on chromosomes 7q, 8q, 17q, 18p and 21q and XpYp at locations 104, 27, 4, 2, 31 and 40 kb from telomeres, respectively. Figure 1 shows a representative MSP result for chromosome 7q with a map of MSP primers.…”

Section: Primer Design For Msp and Bgsmentioning

confidence: 99%

“…10 A total of 941 transcripts, including 214 single-copy genes, were found in subtelomeric sequence assemblies, and the transcript density is similar to that found genome wide. 11 Similar to pericentromeric regions, subtelomeres have a high density of DNA repeats and CpG islands, which are susceptible to DNA methylation by DNA methyltransferases (DNMTs). 12,13 Telomeres, however, do not contain CpG sequences.…”

mentioning

confidence: 99%

Frequent changes in subtelomeric DNA methylation patterns and its relevance to telomere regulation during human hepatocarcinogenesis

Choi

et al. 2010

Intl Journal of Cancer

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Subtelomeric chromatin modifications are important regulators of telomere length. We examined the subtelomeric DNA methylation status of 7q, 8q, 17q, 18p, 21q and XpYp in 32 pairs of hepatocellular carcinomas (HCCs) and their adjacent nonHCCs via methylation-specific PCR (quantified as methylation ratio). In addition, 10q was subjected to bisulfite-genomicsequencing. Telomere length was determined by Southern hybridization. In all cases, the relationship between methylation ratio and telomere length was determined. High levels of methylation ratio were found on chromosomes 7q, 18p and XpYp, whereas 8q 17q and 21q were less methylated in both HCCs and non-HCCs. Compared to non-HCCs, HCCs exhibited a higher methylation ratio on 18p and 21q, and a wider distribution of methylation ratio on 7q, 21q and 10q (p < 0.05). The methylation ratio of 18p and of 21q was negatively and positively correlated with telomere length of HCCs, respectively (p < 0.05). We evaluated changes in methylation pattern between non-HCCs and HCCs. Out of 185 sites, hypermethylation changes from non-HCC to HCC were found at 47 sites and hypomethylation changes at 31 sites. Changes in methylation pattern were observed at three to four sites among six chromosomal sites in 15 patients (47%). There was a tendency toward hypomethylation changes at 7q (p 5 0.013) and hypermethylation changes at 21q (p 5 0.057) when telomere lengthened from non-HCCs to HCCs. In summary, subtelomeric methylation patterns dynamically changed during hepatocarcinogenesis. Subtelomeric methylation at certain regions was related to telomere lengthening or shortening, suggesting an association between subtelomeric chromatin structure and telomere length regulation in human hepatocarcinogenesis.

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Human subtelomeric duplicon structure and organization

Cited by 57 publications

References 51 publications

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

Frequent changes in subtelomeric DNA methylation patterns and its relevance to telomere regulation during human hepatocarcinogenesis

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