ArticleBrain research2019
Somatic mosaicism of sex chromosomes in the blood and brain.
Article in Brain research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Article
- Direct probabilistic quantification of mosaic loss of chromosome Y from sequencing data.bioRxiv : the preprint server for biology · 2026Article
- Assessment of X Chromosome Centromere Instability in Alzheimer's Disease: A Quantitative FISH Approach.Current issues in molecular biology · 2025Article
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- 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
- Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.Nature genetics · 2023Article
- Mosaic Chromosomal Alterations Are Associated With Increased Lung Cancer Risk: Insight From the INTEGRAL-ILCCO Cohort Analysis.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2023Article
- Mosaic Loss of Y Chromosome in White Blood Cells: Its Impact on Men's Health.Physiology (Bethesda, Md.) · 2023Review
- FISHing for Chromosome Instability and Aneuploidy in the Alzheimer's Disease Brain.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Mosaic loss of Chromosome Y in aged human microglia.Genome research · 2022Article
- Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022Review
- Sex-limited chromosomes and non-reproductive traits.BMC biology · 2022Review
- Deletion of Y chromosome before allogeneic hematopoietic stem cell transplantation in male recipients with female donors.Blood advances · 2022Article
- Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.Molecular cytogenetics · 2022Article
- Rats exhibit age-related mosaic loss of chromosome Y.Communications biology · 2021Article
- Review
- Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.Molecular cytogenetics · 2021Article
- Large mosaic copy number variations confer autism risk.Nature neuroscience · 2021Article
- Mosaic loss of human Y chromosome: what, how and why.Human genetics · 2020Review
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
Abstract
In the blood, mosaic somatic aneuploidy (mSA) of all chromosomes has been found to be associated with adverse health outcomes, including hematological cancer. Sex chromosome mSA in the blood has been found to occur at a higher rate than autosomal mSA. Mosaic loss of the Y chromosome is the most common copy number alteration in males, and has been found to be associated with Alzheimer's disease (AD) in blood lymphocytes. mSA of the sex chromosomes has also been identified in the brain; however, little is known about its frequency across individuals. Using WGS data from 362 males and 719 females from the ROSMAP cohort, we quantified the relative rate of sex chromosome mSA in the dorsolateral prefrontal cortex (DLPFC), cerebellum and whole blood. To ascertain the functionality of observed sex chromosome mosaicism in the DLPFC, we examined its correlation with chromosome X and Y gene expression as well as neuropathological and clinical characteristics of AD and cognitive ageing. In males, we found that mSA of the Y chromosome occurs more frequently in blood than in the DLPFC or cerebellum. In the DLPFC, the presence of at least one APOE4 allele was associated with a reduction in read depth of the Y chromosome (p = 1.9e-02). In the female DLPFC, a reduction in chromosome X read depth was associated with reduced cognition at the last clinical visit and faster rate of cognitive decline (p = 7.8e-03; p = 1.9e-02). mSA of all sex chromosomes in the DLPFC were associated with aggregate measures of gene expression, implying functional impact. Our results provide insight into the relative rate of mSA between tissues and suggest that Y and female X chromosome read depth in the DLPFC is modestly associated with late AD risk factors and cognitive pathologies.
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