ArticleJCI insight2022
Mosaic loss of chromosome Y promotes leukemogenesis and clonal hematopoiesis.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 51 citations in OpenAlex.
- Space radiation promotes clonal hematopoiesis and hematologic disease upon aging in a driver gene and sex-specific manner.iScience · 2026Article
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- The clinical relevance of sole loss of chromosome Y in myeloid neoplasms.Blood cancer journal · 2026Article
- Is sex chromosome loss a predictive marker for outcome after sex-mismatched allogeneic hematopoietic stem cell transplantation?Bone marrow transplantation · 2026Article
- Review
- Article
- Beyond XX and XY, Understanding Sex Differences in Leukemia.Medical sciences (Basel, Switzerland) · 2026Review
- Sex differences in innate immune cell responses: Impact on cancer immunity and response to therapy.Frontiers in immunology · 2026Review
- Lysine demethylase 5D promotes CHEK1 inhibitor sensitivity through p38-mediated cyclooxygenase-2 expression in castration-resistant prostate cancer cells.The Journal of pharmacology and experimental therapeutics · 2025Article
- Y-chromosome alteration and its impact on cancer progression and metastasis.Cellular & molecular biology letters · 2025Review
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data.American journal of human genetics · 2025Article
- The association between glyphosate use and mosaic loss of chromosome Y in buccal samples among male pesticide applicators in the Agricultural Health Study.Environment international · 2025Article
- Blood biomarkers are altered in elderly hematological patients exhibiting a mosaic loss of the Y chromosome in bone marrow cells.BMC cancer · 2025Article
- Review
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- Autophagy and Its Association with Macrophages in Clonal Hematopoiesis Leading to Atherosclerosis.International journal of molecular sciences · 2025Review
- Association of Hematopoietic Loss of Y Chromosome With Atrial Fibrillation Incidence and Sex Disparity.JACC. Basic to translational science · 2025Article
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.American journal of human genetics · 2025Article
- A complex systems approach to mosaic loss of the Y chromosome.GeroScience · 2025Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mosaic loss of chromosome Y (mLOY) in blood cells is one of the most frequent chromosome alterations in adult males. It is strongly associated with clonal hematopoiesis, hematopoietic malignancies, and other hematopoietic and nonhematopoietic diseases. However, whether there is a causal relationship between mLOY and human diseases is unknown. Here, we generated mLOY in murine hematopoietic stem and progenitor cells (HSPCs) with CRISPR/Cas9 genome editing. We found that mLOY led to dramatically increased DNA damage in HSPCs. Interestingly, HSPCs with mLOY displayed significantly enhanced reconstitution capacity and gave rise to clonal hematopoiesis in vivo. mLOY, which is associated with AML1-ETO translocation and p53 defects in patients with acute myeloid leukemia (AML), promoted AML in mice. Mechanistically, loss of KDM5D, a chromosome Y-specific histone 3 lysine 4 demethylase in both humans and mice, partially recapitulated mLOY in DNA damage and leukemogenesis. Thus, our study validates mLOY as a functional driver for clonal hematopoiesis and leukemogenesis.
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Registered trials
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.