Evidence map›Paper›PMID 40673498›Full record

ArticleeLife2025

A whole-organism landscape of X-inactivation in humans.

Bjorn Gylemo, Maike Bensberg, Colm E Nestor

Abstract read
In one paragraph

Article in eLife, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Age-related erosion of X chromosome inactivation in human tissues.bioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Article
  6. 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

3 authors.

Bjorn GylemoCrown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0001-5253-6737
Maike BensbergCrown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0003-2395-6083
Colm E NestorCrown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0001-5853-1769

Funding

European Research Council XX-Health-101045171Vetenskapsrådet 2020-01277_VR
6 · The paper itself

Abstract

As females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural genetic system for profiling X-inactivation in humans. By combining allele-resolution data for one previously reported and two newly identified nmXCI females, we directly determined X-inactivation status of 380 X-linked genes across 30 normal tissues, including 198 genes for which XCI status is directly determined for the first time. Our findings represent a substantial advance in our understanding of human X-inactivation and will serve as a reference for dissecting the genetic origin of sex bias in human traits. In addition, our study reveals nmXCI as a common feature of the human female population, with profound consequences for the penetrance and expressivity of X-linked traits in humans.

Indexed as

X Chromosome InactivationChromosomes, Human, XFemaleGenes, X-LinkedHumansMalechromosomesescape from X-inactivationgene expressiongeneticsgenomicshumanskewed X-inactivationX-inactivation

Identifiers

PMID40673498
PMCPMC12270481

What OpenQuestion holds

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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.