Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

Nicholas Stong, Zhong Deng, Ravi Gupta, Sufen Hu, Shiela Paul, Amber K. Weiner, Evan E. Eichler, Tina Graves, Catrina C. Fronick, Laura Courtney, Richard K. Wilson, Paul M. Lieberman, Ramana V. Davuluri, Harold Riethman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


Mapping genome-wide data to human subtelomeres has been problematic due to the incomplete assembly and challenges of low-copy repetitive DNA elements. Here, we provide updated human subtelomere sequence assemblies that were extended by filling telomere-adjacent gaps using clone-based resources. A bioinformatic pipeline incorporating multiread mapping for annotation of the updated assemblies using short-read data sets was developed and implemented. Annotation of subtelomeric sequence features as well as mapping of CTCF and cohesin binding sites using ChIP-seq data sets from multiple human cell types confirmed that CTCF and cohesin bind within 3 kb of the start of terminal repeat tracts at many, but not all, subtelomeres. CTCF and cohesin co-occupancy were also enriched near internal telomere-like sequence (ITS) islands and the nonterminal boundaries of subtelomere repeat elements (SREs) in transformed lymphoblastoid cell lines (LCLs) and human embryonic stem cell (ES) lines, but were not significantly enriched in the primary fibroblast IMR90 cell line. Subtelomeric CTCF and cohesin sites predicted by ChIP-seq using our bioinformatics pipeline (but not predicted when only uniquely mapping reads were considered) were consistently validated by ChIP-qPCR. The colocalized CTCF and cohesin sites in SRE regions are candidates for mediating long-range chromatin interactions in the transcriptrich SRE region. A public browser for the integrated display of short-read sequence-based annotations relative to key subtelomere features such as the start of each terminal repeat tract, SRE identity and organization, and subtelomeric gene models was established.

Original languageEnglish (US)
Pages (from-to)1039-1050
Number of pages12
JournalGenome research
Issue number6
StatePublished - Jun 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline'. Together they form a unique fingerprint.

Cite this