ReviewHuman genetics2020
Mosaic loss of human Y chromosome: what, how and why.
Review in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Age-related DNA methylation on Y chromosome and their associations with total mortality among Chinese males.Aging cell · 2022Pooled it
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Direct probabilistic quantification of mosaic loss of chromosome Y from sequencing data.bioRxiv : the preprint server for biology · 2026Article
- Association of hematopoietic loss of Y chromosome with valvular heart disease incidence and sex susceptibility.Journal of advanced research · 2026Article
- Review
- Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.iScience · 2026Article
- The Diagnostic Performance of a Four-Gene Digital Droplet PCR Panel for Urine Liquid Biopsy in Urothelial Bladder Cancer.Diagnostics (Basel, Switzerland) · 2025Article
- Loss of Y chromosome and its implications in male amyotrophic lateral sclerosis: insights from the UK Biobank.BMC medicine · 2025Article
- Chromothripsis and ecDNA initiated by N4BP2 nuclease fragmentation of cytoplasm-exposed chromosomes.Science (New York, N.Y.) · 2025Article
- Unveiling Aging and Alzheimer's Disease-Associated Dynamics of LINE1 DNA Content and Protein Expression in Mouse Brains.Aging cell · 2025Article
- Y-chromosome alteration and its impact on cancer progression and metastasis.Cellular & molecular biology letters · 2025Review
- Local radiotherapy for cancer patients is associated with mosaic loss of chromosome Y, a hallmark of male aging.npj aging · 2025Article
- Unclassified Chromosomal Abnormalities as an Indicator of Genomic Damage in Survivors of Hodgkin's Lymphoma.Cancers · 2025Article
- Organochlorine pesticide use and mosaic loss of chromosome Y in a study of male farmers.Environmental research · 2025Article
- Large-scale analysis of loss of chromosome Y in human pluripotent stem cells: Implications for Turner syndrome and ribosomopathies.Stem cell reports · 2025Article
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- Exploring genome-transcriptome correlations in cancer.Biochemical Society transactions · 2025Review
- Integrated multiomic analyses: An approach to improve understanding of diabetic kidney disease.Diabetic medicine : a journal of the British Diabetic Association · 2025Review
- A complex systems approach to mosaic loss of the Y chromosome.GeroScience · 2025Review
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Y chromosome (ChrY), the male-specific sex chromosome, has been considered as a genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has been known for more than half a century, but it was constantly considered as a neutral karyotype related to normal aging. These views have been challenged with genome-wide association studies identifying mosaic LOY in human somatic cells is the most commonly acquired mutation in male's genome and is associated with a wide spectrum of human diseases including cancer, Alzheimer's disease, and cardiovascular disease. These previously undescribed clinical significances deeply modify our perception on ChrY and open up a range of new questions. Here, we review the latest advances in our knowledge of the biological origins and clinical consequences of mosaic LOY. We highlight the association of mosaic LOY to pathogenic conditions and evaluate the cause-and-consequence relationships between mosaic LOY and pathogenesis. The known risk factors of mosaic LOY including age, genetic variants, ChrY structural aberrations and environmental stressors are discussed. In light of evidence from pioneering and more recent studies, we propose the micronucleation hypothesis and centromere-dysfunction and telomere-attrition models to explain how mosaic LOY occurs and why ChrY is prone to lose. We believe it is importantly and timely to extend mosaic LOY research from epidemiological associations to mechanistic studies. In this regard, we outline important gaps and assess several future directions from a biological and clinical perspective. An improved understanding of mosaic LOY will open new pathways to modify and increase healthy aging in males.
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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.