ArticleThe Journal of cell biology2004
The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.
Article in The Journal of cell biology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
49 citing papers in PubMed, 97 citations in OpenAlex.
- Oligo(dT) Fluorescence In Situ Hybridization to Visualize the Poly(A) mRNAs in the Internal Tissues ofBio-protocol · 2026Article
- Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture.Nucleus (Austin, Tex.) · 2024Article
- Differences in Alu vs L1-rich chromosome bands underpin architectural reorganization of the inactive-X chromosome and SAHFs.bioRxiv : the preprint server for biology · 2024Article
- Ultrastructure and nuclear architecture of telomeric chromatin revealed by correlative light and electron microscopy.Nucleic acids research · 2022Article
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- The Long Linker Region of Telomere-Binding Protein TRF2 Is Responsible for Interactions with Lamins.International journal of molecular sciences · 2021Article
- Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.Scientific reports · 2019Article
- 4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy.Genome research · 2019Article
- The long noncoding RNA CHROME regulates cholesterol homeostasis in primate.Nature metabolism · 2019Article
- Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Human molecular genetics · 2017Article
- PARP1 Differentially Interacts with Promoter region ofJournal of genetic syndromes & gene therapy · 2016Article
- Finding a place in the SUN: telomere maintenance in a diverse nuclear landscape.Current opinion in cell biology · 2016Review
- Population-based 3D genome structure analysis reveals driving forces in spatial genome organization.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.Frontiers in genetics · 2016Review
- Changes in Nuclear Orientation Patterns of Chromosome 11 during Mouse Plasmacytoma Development.Translational oncology · 2015Article
- Spatial re-organization of myogenic regulatory sequences temporally controls gene expression.Nucleic acids research · 2015Article
- Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.Human mutation · 2014Article
- Stable C0T-1 repeat RNA is abundant and is associated with euchromatic interphase chromosomes.Cell · 2014Article
- DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.PloS one · 2014Article
- 3D organization of telomeres in porcine neutrophils and analysis of LPS-activation effect.BMC cell biology · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
This paper investigates the nuclear localization of human telomeres and, specifically, the 4q35 subtelomere mutated in facioscapulohumeral dystrophy (FSHD). FSHD is a common muscular dystrophy that has been linked to contraction of D4Z4 tandem repeats, widely postulated to affect distant gene expression. Most human telomeres, such as 17q and 17p, avoid the nuclear periphery to reside within the internal, euchromatic compartment. In contrast, 4q35 localizes at the peripheral heterochromatin with 4p more internal, generating a reproducible chromosome orientation that we relate to gene expression profiles. Studies of hybrid and translocation cell lines indicate this localization is inherent to the distal tip of 4q. Investigation of heterozygous FSHD myoblasts demonstrated no significant displacement of the mutant allele from the nuclear periphery. However, consistent association of the pathogenic D4Z4 locus with the heterochromatic compartment supports a potential role in regulating the heterochromatic state and makes a telomere positioning effect more likely. Furthermore, D4Z4 repeats on other chromosomes also frequently organize with the heterochromatic compartment at the nuclear or nucleolar periphery, demonstrating a commonality among chromosomes harboring this subtelomere repeat family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.