Evidence map›Paper›PMID 42079153›Full record

ArticlebioRxiv : the preprint server for biology2026

Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.

Gala N Filippova, Elliott Sanger, James MacDonald, He Fang, Camille Groneck, Masaya Takasaki, Anastasia Meleshko, Wenxiu Ma, Yajuan Liu, Gang Li and 11 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

21 authors.

Gala N FilippovaDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Elliott SangerDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
James MacDonaldDepartment of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA, USA.
He FangDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Camille GroneckDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Masaya TakasakiDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Anastasia MeleshkoDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Wenxiu MaDepartment of Statistics, University of California Riverside, Riverside, CA, USA.
Yajuan LiuARUP Laboratories, Salt Lake City, UT, USA.
Gang LiDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Ran ZhangDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Charles E MurryDepartment of Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, CA, USA.
Daniel Van DykeLaboratory Medicine and Pathology, Mayo Clinic, Minnesota, USA.
Anne SkakkebækDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Claus H GravholtDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0001-5924-1720
William S NobleDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0001-7283-4715
Theo BammlerDepartment of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA, USA.
Jessica E YoungDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Xinxian DengDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.ORCID 0000-0002-5007-218X
Joel B BerletchDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.ORCID 0000-0001-7399-8578
Christine M DistecheDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.

Funding

UW 4-Dimensional Genomic Organization of Mammalian Embryogenesis CenterUM1HG011586 · NHGRI · UNIVERSITY OF WASHINGTON · PI DISTECHE, CHRISTINE M., NOBLE, WILLIAM STAFFORD · 2020 to 2024
$10.3M
Dissecting the role of sex-linked genes and APOE e4 risk in ADR01AG073918 · NIA · UNIVERSITY OF WASHINGTON · PI DISTECHE, CHRISTINE M., JAYADEV, SUMAN · 2021 to 2025
$5.9M
X chromosome regulation and role in aneuploidyR35GM131745 · NIGMS · UNIVERSITY OF WASHINGTON · PI Christine M. Disteche · 2019 to 2026
$4.1M
Molecular studies of sex chromosome aneuploidyR01GM113943 · NIGMS · UNIVERSITY OF WASHINGTON · PI DISTECHE, CHRISTINE M. · 2015 to 2018
$1.7M
Role of Kdm6a in escape from X inactivation and in cognitionR03MH105768 · NIMH · UNIVERSITY OF WASHINGTON · PI BERLETCH, JOEL BRADFORD · 2015 to 2016
$155k
NHGRI NIH HHS UM1 HG011586NIA NIH HHS R01 AG073918NIGMS NIH HHS R01 GM113943NIGMS NIH HHS R35 GM131745NIMH NIH HHS R03 MH105768
6 · The paper itself

Abstract

Common sex chromosome aneuploidies (SCAs) often present with cognitive and cardiovascular dysfunction in humans. To address SCA effects on gene expression and DNA methylation in relevant cell types, we differentiated neural precursor cells (NPCs) and cardiomyocytes (CMs) from human induced pluripotent stem cells (hiPSCs) with different numbers of sex chromosomes, including isogenic and independent lines. As expected, the expression of genes that escape X inactivation (escapees) mostly increases with the number of inactive X chromosomes (Xi). However, allelic analysis shows dampening of escapees specifically on the Xi in XXY compared to XX in both NPCs and CMs, revealing a novel type of dosage compensation in SCA. In contrast, Y-linked gene expression is higher in XXY versus XY NPCs, but the opposite is observed in CMs. This may explain the greater number of differentially expressed autosomal genes in NPCs versus CMs with an added Y chromosome, while effects of added X chromosomes are similar between cell types. Concordantly, changes in autosomal DNA methylation are mainly driven by the presence of a Y chromosome. These findings highlight the cell-type specificity of sex-linked and autosomal gene regulation in SCA conditions.

Indexed as

allelic expressionaneuploidyDNA methylationsex-biased genessex differencessex linked gene dosage

Identifiers

PMID42079153
PMCPMC13131563

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.