ArticleNature2024
Genetic drivers and cellular selection of female mosaic X chromosome loss.
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Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36citing papers in PubMed, 1 pooled it
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Increased somatic mosaicism in autosomal and X chromosomes for suicide death.Molecular psychiatry · 2025Pooled it
- Modulating the degree of X-inactivation escape to establish causal links to sex-biased disease.Nature reviews. Molecular cell biology · 2026Article
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Longitudinal characterization of mosaic chromosomal alterations identifies factors influencing clonal dynamics of leukocytes.Nature communications · 2026Article
- geneXplore: An Interactive Browser for X Chromosome-Wide Association Study Results.medRxiv : the preprint server for health sciences · 2026Article
- Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026Article
- Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.European journal of pediatrics · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.Nature communications · 2026Article
- Review
- Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.Nature medicine · 2026Article
- Unlocking the potential of FinnGen to advance cancer research.Nature reviews. Cancer · 2026Article
- Assessment of mosaic loss of chromosome Y in pulmonary fibrosis reveals limited association with susceptibility or disease severity.BMJ open respiratory research · 2026Article
- Chromosomal and hormonal factors involved in human sexual dimorphism.Endocrine journal · 2026Review
- Sex in Immune Cells and Parasitic Diseases - A Complex Relationship.Immunological reviews · 2026Review
- X chromosome inactivation, X-linked disorders, and cancer.Frontiers in genetics · 2026Review
- The Somatic Aneuploidy Landscape of Adult Glia Reveals 16p as a Hotspot and Differentiates Mosaicism in Normal Glia from Chromosomal Instability in Glioblastoma.Research square · 2025Article
- Clonal haematopoiesis in cardiovascular disease: prognostic role and novel therapeutic target.Nature reviews. Cardiology · 2025Review
- Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations.Nature communications · 2025Article
- Large-scale single-cell phylogenetic mapping of clonal evolution in the human aging esophagus.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
45 authors.
Aoxing Liu *Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. liuaoxin@broadinstitute.org.ORCID 0000-0002-9155-1494
Giulio Genovese *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. giulio@broadinstitute.org.ORCID 0000-0003-3066-5575
Yajie Zhao *MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID 0000-0002-2747-0219
Matti PirinenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-1664-1350
Seyedeh M ZekavatProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Katherine A KentistouMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Zhiyu YangInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Caitlyn VlasschaertDepartment of Medicine, Queen's University, Kingston, Ontario, Canada.
Xiaoxi LiuLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0002-1933-8613
Derek W BrownDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Georgi HudjashovEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Bryan R GormanCenter for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-4239-4672
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4591-1214
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-0467-3064
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0001-5638-3504
Saiju PyarajanCenter for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.ORCID 0000-0002-9047-3762
Valdislav TuzovEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Fanny-Dhelia PajusteEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0002-6014-0537
Mervi AavikkoInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Timo P SipiläInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Awaisa GhazalInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Lei SongDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Eugene J GardnerMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID 0000-0001-9671-1533
FinnGen
Estonian Biobank Research Team
Breast Cancer Association Consortium
Million Veteran Program
Vijay G SankaranProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-0044-443X
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-2527-5874
Hanna M OllilaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Taru TukiainenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-5404-8398
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-2324-3393
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Pradeep NatarajanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Alexander BickDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-5824-9595
Steven A McCarrollProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6954-8184
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0002-6452-4095
Po-Ru LohProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. poruloh@broadinstitute.org.ORCID 0000-0001-5542-9064
Andrea GannaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. andrea.ganna@helsinki.fi.ORCID 0000-0002-8147-240X
John R B PerryMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK. john.perry@mrc-epid.cam.ac.uk.ORCID 0000-0001-6483-3771
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. mitchell.machiela@nih.gov.ORCID 0000-0001-6538-9705
Funding
Genetic EpidemiologyZIACP005803 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GOLDSTEIN, ALISA · 2009 to 2025
$24.8MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MRevealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7MEstonian Research CouncilEuropean Union through the European Regional Development Fund ProjectIntramural NIH HHS Z99 CA999999Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_12015/2NIEHS NIH HHS DP2 ES030554NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH123451
Abstract
Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals
Indexed as
AneuploidyChromosomes, Human, XClone CellsLeukocytesMosaicismAdultAllelesAutoimmune DiseasesBiological Specimen BanksChromosome SegregationChromosomes, Human, YExomeF-Box ProteinsFemaleGenetic Predisposition to DiseaseGerm-Line MutationF-Box ProteinsFBXO10 protein, human
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