Evidence map›Paper›PMID 39956831›Full record

ArticleCommunications biology2025

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

Jenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, Sinead M McGlacken-Byrne, Tony Brooks, Olumide K Ogunbiyi, Danielle Liptrot, Nathan Dunton, Gaganjit K Madhan, Kate Metcalfe and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. From a developmental atlas to maps of disease origin.Clinical and translational medicine · 2026
    Article
  4. Review
  5. Article
  6. Article
  7. Article
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

19 authors.

Jenifer P SuntharalinghamGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0002-8897-7697
Ignacio Del ValleGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0003-2595-3652
Federica BuonocoreGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0002-8274-7241
Sinead M McGlacken-ByrneGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0002-4289-0852
Tony BrooksUCL Genomics, UCL Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Olumide K OgunbiyiDepartment of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Danielle LiptrotDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Nathan DuntonUCL Genomics, UCL Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Gaganjit K MadhanUCL Genomics, UCL Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Kate MetcalfeDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Lydia NelDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Abigail R MarshallDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Miho IshidaGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Neil J SebireDepartment of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Gudrun E MooreGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0002-2099-3420
Berta CrespoDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID http://orcid.org/0000-0003-0006-009X
Nita SolankyDevelopmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.
Gerard S ConwayInstitute for Women's Health, University College London, London, WC1E 6AU, UK.ORCID http://orcid.org/0000-0002-3346-5029
John C AchermannGenetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK. j.achermann@ucl.ac.uk.ORCID http://orcid.org/0000-0001-8787-6272

Funding

RCUK | Medical Research Council (MRC) MR/R006237/1RCUK | Medical Research Council (MRC) MR/X008304/1Wellcome TrustWellcome Trust (Wellcome) 209328/Z/17/ZWellcome Trust (Wellcome) 216362/Z/19/ZWellcome Trust (Wellcome) 226202/Z/22/Z
6 · The paper itself

Abstract

Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore undertook an exploratory study of the transcriptomic landscape of clinically relevant human fetal 45,X tissues (including pancreas, liver, kidney, skin, placenta) with matched 46,XX and 46,XY control samples between 11 and 15 weeks post conception (n = 78). Although most pseudoautosomal region 1 (PAR1) genes are lower in monosomy X tissues, we also found reduced expression of several key genes escaping X inactivation (e.g., KDM5C and KDM6A), several ancestral X-Y gene pairs, and potentially clinically important transcripts such as genes implicated in ascending aortic aneurysm. In contrast, higher expression of an autosomal, long non-coding RNA (OVCH1-AS1) is seen in all 45,X tissues. In the placenta, lower expression of CSF2RA is demonstrated, likely contributing to immune dysregulation. Taken together, these findings provide insights into the biological consequences of a single X chromosome during early human development and potential insights in genetic mechanisms in Turner syndrome.

Indexed as

Chromosomes, Human, XFetal DevelopmentMonosomyPlacentationTranscriptomeTurner SyndromeFemaleGene Expression Regulation, DevelopmentalHumansPlacentaPregnancy

Identifiers

PMID39956831
PMCPMC11830783

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.