ArticleGenome research2004
Mapping and initial analysis of human subtelomeric sequence assemblies.
Article in Genome research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed.
- Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.Nucleic acids research · 2025Article
- Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing.Cell genomics · 2024Article
- Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation.BMC bioinformatics · 2024Article
- Neotelomeres and Telomere-Spanning Chromosomal Arm Fusions in Cancer Genomes Revealed by Long-Read Sequencing.bioRxiv : the preprint server for biology · 2023Article
- Emergence and influence of sequence bias in evolutionarily malleable, mammalian tandem arrays.BMC biology · 2023Article
- Telogator: a method for reporting chromosome-specific telomere lengths from long reads.Bioinformatics (Oxford, England) · 2022Article
- TElomeric repeat-containing RNA (TERRA): Physiological functions and relevance in cancer.Frontiers in oncology · 2022Review
- Telomere-specific chromatin capture using a pyrrole-imidazole polyamide probe for the identification of proteins and non-coding RNAs.Epigenetics & chromatin · 2021Article
- Structural variant evolution after telomere crisis.Nature communications · 2021Article
- Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.Translational psychiatry · 2020Article
- Subtelomeric Transcription and its Regulation.Journal of molecular biology · 2020Review
- Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.PLoS genetics · 2020Article
- Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.Scientific reports · 2018Article
- The Alteration of Subtelomeric DNA Methylation in Aging-Related Diseases.Frontiers in genetics · 2018Review
- The shortening of leukocyte telomere length relates to DNA hypermethylation of LINE-1 in type 2 diabetes mellitus.Oncotarget · 2017Article
- Satellite DNA: An Evolving Topic.Genes · 2017Review
- High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.Nucleic acids research · 2017Article
- Global methylation, oxidative stress, and relative telomere length in biliary atresia patients.Scientific reports · 2016Article
- Subtelomere organization in the genome of the microsporidian Encephalitozoon cuniculi: patterns of repeated sequences and physicochemical signatures.BMC genomics · 2016Article
- Association between Long Interspersed Nuclear Element-1 Methylation and Relative Telomere Length in Wilms Tumor.Chinese medical journal · 2015Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Physical mapping data were combined with public draft and finished sequences to derive subtelomeric sequence assemblies for each of the 41 genetically distinct human telomere regions. Sequence gaps that remain on the reference telomeres are generally small,well-defined,and for the most part,restricted to regions directly adjacent to the terminal (TTAGGG)n tract. Of the 20.66 Mb of subtelomeric DNA analyzed, 3.01 Mb are subtelomeric repeat sequences (Srpt),and an additional 2.11 Mb are segmental duplications. The subtelomeric sequence assemblies are enriched >25-fold in short,internal (TTAGGG)n-like sequences relative to the rest of the genome; a total of 114 (TTAGGG)n-like islands were found,55 within Srpt regions,35 within one-copy regions,11 at one-copy/Srpt or Srpt/segmental duplication boundaries,and 13 at the telomeric ends of assemblies. Transcripts were annotated in each assembly,noting their mapping coordinates relative to their respective telomere and whether they originate in duplicated DNA or single-copy DNA. A total of 697 transcripts were found in 15.53 Mb of one-copy DNA,76 transcripts in 2.11 Mb of segmentally duplicated DNA,and 168 transcripts in 3.01 Mb of Srpt sequence. This overall transcript density is similar (within approximately 10%) to that found genome-wide. Zinc finger-containing genes and olfactory receptor genes are duplicated within and between multiple telomere regions.
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