Evidence map›Paper›PMID 40355603›Full record

ReviewNature reviews. Genetics2025

X-linked competition - implications for human development and disease.

Philip M Boone, Teresa Buenaventura, James W D King, Matthias Merkenschlager

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. A factor integrating transcription and repression of surface antigen genes in African trypanosomes.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Case Report: Deep intronicFrontiers in endocrinology · 2026
    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

4 authors.

Philip M BooneCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA.
Teresa BuenaventuraMRC Laboratory of Medical Sciences, London, UK.
James W D KingMRC Laboratory of Medical Sciences, London, UK.
Matthias MerkenschlagerMRC Laboratory of Medical Sciences, London, UK. matthias.merkenschlager@lms.mrc.ac.uk.ORCID http://orcid.org/0000-0003-2889-3288

Funding

Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
Defining the Disorders of Genome OrganizationK08NS117891 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BOONE, PHILIP MICHAEL · 2020 to 2024
$988k
NHGRI NIH HHS U01 HG011755NINDS NIH HHS K08 NS117891Wellcome Trust
6 · The paper itself

Abstract

During early mammalian female development, X chromosome inactivation leads to random transcriptional silencing of one of the two X chromosomes. This inactivation is maintained through subsequent cell divisions, leading to intra-individual diversity, whereby cells express either the maternal or paternal X chromosome. Differences in X chromosome sequence content can trigger competitive interactions between clones that may alter organismal development and skew the representation of X-linked sequence variants in a cell-type-specific manner - a recently described phenomenon termed X-linked competition in analogy to existing cell competition paradigms. Skewed representation can define the phenotypic impact of X-linked variants, for example, the manifestation of disease in female carriers of X-linked disease alleles. Here, we review what is currently known about X-linked competition, reflect on what remains to be learnt and map out the implications for X-linked human disease.

Indexed as

Chromosomes, Human, XGenes, X-LinkedGenetic Diseases, X-LinkedHuman DevelopmentX Chromosome InactivationAnimalsFemaleHumansMale

Identifiers

PMID40355603
PMCPMC12277006

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.