Evidence map›Paper›PMID 20360044›Full record

ArticleNucleic acids research2010

Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene.

Nele Gheldof, Emily M Smith, Tomoko M Tabuchi, Christoph M Koch, Ian Dunham, John A Stamatoyannopoulos, Job Dekker

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed
4.6field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

65 citing papers in PubMed, 105 citations in OpenAlex.

  1. Epigenetic regulation and chromatin organization in cystic fibrosis airways.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2026
    Review
  2. Article
  3. Article
  4. International journal of molecular sciences · 2025
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. International journal of molecular sciences · 2021
    Article
  15. Review
  16. Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2020
    Review
  17. Article
  18. Review
  19. Review
  20. Review

5 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Nele GheldofProgram in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, 364 Plantation Street, Worcester, MA 01605-0103, USA.
Emily M Smith
Tomoko M Tabuchi
Christoph M Koch
Ian Dunham
John A Stamatoyannopoulos
Job Dekker
Wellcome Sanger Institute · GBUniversity of Massachusetts Chan Medical School · USEuropean Bioinformatics Institute · GB

Funding

Structural Annotation of the Human GenomeR01HG003143 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Job Dekker · 2003 to 2026
$15.4M
A Comprehensive catalog of human DNasel hypersensitive sitesU54HG004592 · NHGRI · UNIVERSITY OF WASHINGTON · PI STAMATOYANNOPOULOS, JOHN A · 2007 to 2011
$15.0M
Detecting Human Functional Sequences with MicroarraysU01HG003168 · NHGRI · SANGER INSTITUTE · PI DUNHAM, IAN · 2003 to 2006
$1.3M
NHGRI NIH HHS HG003143NHGRI NIH HHS HG004592NHGRI NIH HHS R01 HG003143NHGRI NIH HHS U01 HG003168Wellcome Trust
6 · The paper itself

Abstract

Identification of regulatory elements and their target genes is complicated by the fact that regulatory elements can act over large genomic distances. Identification of long-range acting elements is particularly important in the case of disease genes as mutations in these elements can result in human disease. It is becoming increasingly clear that long-range control of gene expression is facilitated by chromatin looping interactions. These interactions can be detected by chromosome conformation capture (3C). Here, we employed 3C as a discovery tool for identification of long-range regulatory elements that control the cystic fibrosis transmembrane conductance regulator gene, CFTR. We identified four elements in a 460-kb region around the locus that loop specifically to the CFTR promoter exclusively in CFTR expressing cells. The elements are located 20 and 80 kb upstream; and 109 and 203 kb downstream of the CFTR promoter. These elements contain DNase I hypersensitive sites and histone modification patterns characteristic of enhancers. The elements also interact with each other and the latter two activate the CFTR promoter synergistically in reporter assays. Our results reveal novel long-range acting elements that control expression of CFTR and suggest that 3C-based approaches can be used for discovery of novel regulatory elements.

Indexed as

Enhancer Elements, GeneticRegulatory Sequences, Nucleic AcidCell LineChromatinCystic Fibrosis Transmembrane Conductance RegulatorHumansPromoter Regions, GeneticChromatinCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID20360044
PMCPMC2910055
OpenAlexW2128041634

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.