Evidence map›Paper›PMID 27376235›Full record

ArticleNature genetics2016

Genetic dissection of the α-globin super-enhancer in vivo.

Deborah Hay, Jim R Hughes, Christian Babbs, James O J Davies, Bryony J Graham, Lars Hanssen, Mira T Kassouf, A Marieke Marieke Oudelaar, Jacqueline A Sharpe, Maria C Suciu and 13 more

Abstract read
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 239 papers.

0numbers the graph read from it
0cells of the map it votes in
239citing papers in PubMed
–field-weighted citation impact
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

239 citing papers in PubMed.

  1. Article
  2. Article
  3. Developmental expression of the skeletal muscle determination gene,bioRxiv : the preprint server for biology · 2026
    Article
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  5. Article
  6. Article
  7. Facilitators may represent a new class of regulatory elements.Current opinion in genetics & development · 2026
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. Review
  20. Mechanisms of Globin Gene Regulation in Mammals.Annual review of genetics · 2025
    Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Deborah HayMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Jim R HughesMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Christian Babbs *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
James O J Davies *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Bryony J Graham *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Lars Hanssen *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Mira T Kassouf *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
A Marieke Marieke Oudelaar *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Jacqueline A Sharpe *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Maria C Suciu *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Jelena Telenius *MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Ruth Williams *Weatherall Institute of Molecular Medicine, Oxford, UK.
Christina RodeMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Pik-Shan LiMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Len A PennacchioGenomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California.
Jacqueline A Sloane-StanleyMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Helena AyyubMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Sue ButlerMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Tatjana Sauka-SpenglerWeatherall Institute of Molecular Medicine, Oxford, UK.
Richard J GibbonsMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Andrew J H SmithMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
William G WoodMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.
Douglas R HiggsMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.

Funding

Generation of an In Vivo Human Genome Transcriptional Enhancer DatasetR01HG003988 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio · 2006 to 2026
$24.1M
Center for Mammalian Regulatory GenomicsU54HG006997 · NHGRI · LUDWIG INSTITUTE FOR CANCER RES LTD · PI REN, BING · 2012 to 2016
$14.3M
Research Project: Genome-Wide Atlas of Craniofacial Transcriptional EnhancersU01DE020060 · NIDCR · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI VISEL, AXEL · 2009 to 2013
$2.1M
Medical Research Council MC_PC_15069Medical Research Council MC_U137961144Medical Research Council MC_U137961145Medical Research Council MC_U137961147Medical Research Council MC_UU_12009/1Medical Research Council MC_UU_12009/10Medical Research Council MC_UU_12009/15Medical Research Council MC_UU_12009/3Medical Research Council MC_UU_12009/4Medical Research Council MR/N00969X/1NHGRI NIH HHS R01 HG003988NHGRI NIH HHS U54 HG006997NIDCR NIH HHS U01 DE020060Wellcome Trust
6 · The paper itself

Abstract

Many genes determining cell identity are regulated by clusters of Mediator-bound enhancer elements collectively referred to as super-enhancers. These super-enhancers have been proposed to manifest higher-order properties important in development and disease. Here we report a comprehensive functional dissection of one of the strongest putative super-enhancers in erythroid cells. By generating a series of mouse models, deleting each of the five regulatory elements of the α-globin super-enhancer individually and in informative combinations, we demonstrate that each constituent enhancer seems to act independently and in an additive fashion with respect to hematological phenotype, gene expression, chromatin structure and chromosome conformation, without clear evidence of synergistic or higher-order effects. Our study highlights the importance of functional genetic analyses for the identification of new concepts in transcriptional regulation.

Indexed as

Gene Expression Regulationalpha-GlobinsAnimalsChromatinEmbryo, MammalianEnhancer Elements, GeneticErythroid CellsMiceMice, KnockoutTranscription FactorsTranscription, Geneticalpha-GlobinsChromatinTranscription Factors

Identifiers

PMID27376235
PMCPMC5058437

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Registered trials

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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.