Evidence map›Paper›PMID 39549696›Full record

ArticleCell2025

Functional genomics of human skeletal development and the patterning of height heritability.

Daniel Richard, Pushpanathan Muthuirulan, Mariel Young, Loic Yengo, Sailaja Vedantam, Eirini Marouli, Eric Bartell, GIANT Consortium, Joel Hirschhorn, Terence D Capellini

Abstract readEvaluation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Modular genetic architecture underlies human hand and foot evolution.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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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

10 authors.

Daniel RichardHuman Evolutionary Biology, Harvard University, Cambridge, MA, USA.
Pushpanathan MuthuirulanHuman Evolutionary Biology, Harvard University, Cambridge, MA, USA.
Mariel YoungHuman Evolutionary Biology, Harvard University, Cambridge, MA, USA.
Loic YengoInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Sailaja VedantamDivision of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
Eirini MarouliWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Eric BartellDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
GIANT Consortium
Joel HirschhornDivision of Endocrinology, Boston Children's Hospital, Boston, MA, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Terence D CapelliniHuman Evolutionary Biology, Harvard University, Cambridge, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: tcapellini@fas.harvard.edu.

Funding

LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9M
Cell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1M
Molecular architecture of the human knee joint and pelvis at single cell resolutionR01AR081274 · NIAMS · HARVARD UNIVERSITY · PI Terence D Capellini, April Marie Craft · 2023 to 2026
$3.1M
Defining the Human Articular Chondrocyte LineageR01AR073821 · NIAMS · BOSTON CHILDREN'S HOSPITAL · PI CRAFT, APRIL MARIE · 2019 to 2023
$2.7M
NIAMS NIH HHS R01 AR073821NIAMS NIH HHS R01 AR081274NICHD NIH HHS R24 HD000836NIDDK NIH HHS R01 DK075787
6 · The paper itself

Abstract

Underlying variation in height are regulatory changes to chondrocytes, cartilage cells comprising long-bone growth plates. Currently, we lack knowledge on epigenetic regulation and gene expression of chondrocytes sampled across the human skeleton, and therefore we cannot understand basic regulatory mechanisms controlling height biology. We first rectify this issue by generating extensive epigenetic and transcriptomic maps from chondrocytes sampled from different growth plates across developing human skeletons, discovering novel regulatory networks shaping human bone/joint development. Next, using these maps in tandem with height genome-wide association study (GWAS) signals, we disentangle the regulatory impacts that skeletal element-specific versus global-acting variants have on skeletal growth, revealing the prime importance of regulatory pleiotropy in controlling height variation. Finally, as height is highly heritable, and thus often the test case for complex-trait genetics, we leverage these datasets within a testable omnigenic model framework to discover novel chondrocyte developmental modules and peripheral-acting factors shaping height biology and skeletal growth.

Indexed as

Body HeightBone DevelopmentGenetic Association StudiesGenomicsQuantitative Trait, HeritableSkeletonChondrocytesEpigenomicsGene Regulatory NetworksHumansTranscriptomecartilagechondrocytecomplex polygenic traitdiabetesepigenomicsheightheritabilityomnigenic modelskeletal developmenttranscriptomics

Identifiers

PMID39549696
PMCPMC11724752

What OpenQuestion holds

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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.