Evidence map›Paper›PMID 33837451›Full record

ArticleCellular and molecular life sciences : CMLS2021

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.

Jan P Dumanski, Jonatan Halvardson, Hanna Davies, Edyta Rychlicka-Buniowska, Jonas Mattisson, Behrooz Torabi Moghadam, Noemi Nagy, Kazimierz Węglarczyk, Karolina Bukowska-Strakova, Marcus Danielsson and 25 more

Open access · hybridAbstract read
In one paragraph

Article in Cellular and molecular life sciences : CMLS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.

0numbers the graph read from it
0cells of the map it votes in
76citing papers in PubMed
6.5field-weighted citation impact, top 2% of its field
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

76 citing papers in PubMed, 104 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Article
  18. Article
  19. Review
  20. Article

16 more citing papers are in PubMed but not listed here.

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

35 authors at 6 institutions in 3 countries.

Jan P DumanskiDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden. jan.dumanski@igp.uu.se.ORCID http://orcid.org/0000-0002-1489-1452
Jonatan HalvardsonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Hanna Davies *Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Edyta Rychlicka-Buniowska *International Research Agendas Programme, 3P Medicine Laboratory, Medical University of Gdańsk, Gdańsk, Poland.
Jonas Mattisson *Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Behrooz Torabi Moghadam *Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Noemi NagyDepartment of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden.
Kazimierz WęglarczykDepartment of Clinical Immunology, Institute of Paediatrics, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Karolina Bukowska-StrakovaDepartment of Clinical Immunology, Institute of Paediatrics, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Marcus DanielssonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Paweł OlszewskiInternational Research Agendas Programme, 3P Medicine Laboratory, Medical University of Gdańsk, Gdańsk, Poland.
Arkadiusz PiotrowskiFaculty of Pharmacy and 3P Medicine Laboratory, International Research Agendas Programme, Medical University of Gdańsk, Gdańsk, Poland.
Erin OertonMRC Epidemiology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Aleksandra AmbickaDepartment of Tumour Pathology, Kraków Branch, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Kraków, Poland.
Marcin PrzewoźnikDepartment of Tumour Pathology, Kraków Branch, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Kraków, Poland.
Łukasz BełchDepartment and Clinic of Urology, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Tomasz GrodzickiDepartment and Clinic of Internal Medicine and Gerontology, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Piotr L ChłostaDepartment and Clinic of Urology, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Stefan ImrehDepartment Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, Uppsala, Sweden.
Lena KilanderDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, Uppsala, Sweden.
Jessica NordlundDepartment of Medical Sciences, Uppsala University, Uppsala, Sweden.
Adam AmeurDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Ulf GyllenstenDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Åsa JohanssonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Alicja JózkowiczDepartment of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
Maciej SiedlarDepartment of Clinical Immunology, Institute of Paediatrics, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Alicja Klich-RączkaDepartment and Clinic of Internal Medicine and Gerontology, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Janusz JaszczyńskiDepartment of Urology, Maria Skłodowska-Curie Memorial Cancer Centre, Institute of Oncology, Kraków Branch, Kraków, Poland.
Stefan EnrothDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Jarosław BaranDepartment of Clinical Immunology, Institute of Paediatrics, Jagiellonian University, Collegium Medicum, Kraków, Poland.
Martin IngelssonDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, Uppsala, Sweden.
John R B PerryMRC Epidemiology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Janusz RyśDepartment of Tumour Pathology, Kraków Branch, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Kraków, Poland.
Lars A ForsbergDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden. lars.forsberg@igp.uu.se.ORCID http://orcid.org/0000-0002-1701-755X
Uppsala University · SEJagiellonian University · PLThe Maria Sklodowska-Curie National Research Institute of Oncology · PLGdańsk Medical University · PLKarolinska Institutet · SEUniversity of Cambridge · GB

Funding

H2020 European Research Council () 679744Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_12015/2Vetenskapsrådet (SE) 2017-03762
6 · The paper itself

Abstract

Epidemiological investigations show that mosaic loss of chromosome Y (LOY) in leukocytes is associated with earlier mortality and morbidity from many diseases in men. LOY is the most common acquired mutation and is associated with aberrant clonal expansion of cells, yet it remains unclear whether this mosaicism exerts a direct physiological effect. We studied DNA and RNA from leukocytes in sorted- and single-cells in vivo and in vitro. DNA analyses of sorted cells showed that men diagnosed with Alzheimer's disease was primarily affected with LOY in NK cells whereas prostate cancer patients more frequently displayed LOY in CD4 + T cells and granulocytes. Moreover, bulk and single-cell RNA sequencing in leukocytes allowed scoring of LOY from mRNA data and confirmed considerable variation in the rate of LOY across individuals and cell types. LOY-associated transcriptional effect (LATE) was observed in ~ 500 autosomal genes showing dysregulation in leukocytes with LOY. The fraction of LATE genes within specific cell types was substantially larger than the fraction of LATE genes shared between different subsets of leukocytes, suggesting that LOY might have pleiotropic effects. LATE genes are involved in immune functions but also encode proteins with roles in other diverse biological processes. Our findings highlight a surprisingly broad role for chromosome Y, challenging the view of it as a "genetic wasteland", and support the hypothesis that altered immune function in leukocytes could be a mechanism linking LOY to increased risk for disease.

Indexed as

Chromosomes, Human, YMosaicismAlzheimer DiseaseCD4-Positive T-LymphocytesGene Expression RegulationHumansKiller Cells, NaturalLeukocytesMaleProstatic NeoplasmsDifferential gene expressionLATELOYLOY-associated transcriptional effectsMosaic loss of chromosome Y

Identifiers

PMID33837451
PMCPMC8106578
OpenAlexW3148534650

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.