☆ 4.5 Review

Mosaic Loss of Y Chromosome in White Blood Cells: Its Impact on Men's Health

PHYSIOLOGY (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Biochemistry & Molecular Biology

Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men

Pablo Garcia-Gonzalez et al.

Summary: Mosaic loss of chromosome Y (mLOY) is a common somatic event associated with Alzheimer's disease (AD) and can be age-confounded in genome-wide association studies. This study used Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) and found that higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment. The study suggests that mLOY is involved in AD pathogenesis and shows associations with cerebrospinal fluid biomarkers.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

Genetic variation in the Y chromosome and sex-biased DNA methylation in somatic cells in the mouse

Enkhjin Batdorj et al.

Summary: Several lines of evidence suggest that the presence of the Y chromosome influences DNA methylation of autosomal loci. In this study, we identified Y chromosome dependent differentially methylated regions (yDMRs) in mice and found that most of the yDMRs were located in transposable elements (TEs) and had lower methylation in XY mice compared to XX or XO mice. Further analyses showed that genetic variation in the Y chromosome influenced methylation levels of autosomal regions.

MAMMALIAN GENOME (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Mosaic loss of Y chromosome in monocytes is associated with lower survival after transcatheter aortic valve replacement

Silvia Mas-Peiro et al.

Summary: This study found that mosaic loss of Y chromosome (LOY) in blood cells is associated with significantly impaired long-term survival even after successful transcatheter aortic valve replacement (TAVR). LOY induces cardiac fibrosis, mimicking the consequences of aortic valve stenosis, and is related to age-related diseases. The study also identified a pro-fibrotic gene signature in LOY monocytes. These findings highlight the importance of LOY in TAVR and provide new insights for targeted therapies based on LOY-induced cardiac fibrosis.

EUROPEAN HEART JOURNAL (2023)

添加到收藏夹

Article Medicine, Research & Experimental

Mosaic loss of chromosome Y promotes leukemogenesis and clonal hematopoiesis

Qi Zhang et al.

Summary: Mosaic loss of chromosome Y (mLOY) is a common chromosome alteration in adult males and is associated with hematopoietic malignancies and other diseases. By using CRISPR/Cas9 genome editing, researchers generated mLOY in mouse hematopoietic stem and progenitor cells and found that it increased DNA damage and promoted acute myeloid leukemia (AML) in mice. The loss of KDM5D, a chromosome Y-specific histone 3 lysine 4 demethylase, partially reproduced the effects of mLOY in DNA damage and leukemogenesis.

JCI INSIGHT (2022)

添加到收藏夹

Article Multidisciplinary Sciences

The longitudinal dynamics and natural history of clonal haematopoiesis

Margarete A. Fabre et al.

Summary: Clonal haematopoiesis, a common phenomenon in human tissues during aging, was studied by tracking 697 clones from 385 individuals aged 55 years or older over a median of 13 years. The study found that 92.4% of the clones expanded at a stable exponential rate, with different mutations driving different growth rates. Clones with the same mutation had growth rates differing by approximately +/- 5% per year. The study also revealed that mutations driving faster clonal growth carried a higher risk of malignant progression.

NATURE (2022)

添加到收藏夹

Article Multidisciplinary Sciences

Clonal dynamics of haematopoiesis across the human lifespan

Emily Mitchell et al.

Summary: Age-related changes in human hematopoiesis result in reduced regenerative capacity, cytopenias, immune dysfunction, and increased risk of blood cancer. Gene sequencing revealed a significant decrease in clonal diversity in elderly individuals, accompanied by pervasive positive selection.

NATURE (2022)

添加到收藏夹

Article Genetics & Heredity

Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Bozena Bruhn-Olszewska et al.

Summary: The study reveals a correlation between loss of chromosome Y (LOY) and the severity of COVID-19, particularly in its impact on immune cell functions. This may explain the male bias for more severe cases of COVID-19.

GENOME MEDICINE (2022)

添加到收藏夹

Article Genetics & Heredity

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

Siddhartha P. Kar et al.

Summary: This study analyzes genetic data to understand the genetic predisposition and causal links of clonal hematopoiesis (CH) in a large population. It identifies new genetic loci associated with CH, subtype-specific associations, and causal relationships between CH and other traits.

NATURE GENETICS (2022)

添加到收藏夹

Article Multidisciplinary Sciences

Hematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality

Soichi Sano et al.

Summary: This study finds that hematopoietic mosaic loss of Y chromosome (mLOY) is associated with increased risk of mortality and age-related diseases in men. The animal experiment results show that male mice reconstituted with bone marrow cells lacking the Y chromosome display increased mortality and age-related profibrotic pathologies including reduced cardiac function. Further research reveals that cardiac macrophages lacking the Y chromosome exhibit polarization toward a more fibrotic phenotype, and treatment with a specific antibody can alleviate cardiac dysfunction. A prospective study also reveals that mLOY in blood is associated with an increased risk for cardiovascular disease and heart failure-associated mortality.

SCIENCE (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Mosaic loss of Chromosome Y in aged human microglia

Michael C. Vermeulen et al.

Summary: Mosaic loss of Chromosome Y (LOY) is a common acquired structural mutation in the leukocytes of aging men that is correlated with several age-related diseases, including Alzheimer's disease (AD). This study provides the first evidence of LOY in microglia and highlights its potential roles in aging and the pathogenesis of neurodegenerative disorders such as AD.

GENOME RESEARCH (2022)

添加到收藏夹

Article Hematology

Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells

Madhu M. Ouseph et al.

Summary: The study findings suggest that a proportion of >= 75% LOY in bone marrow cells is associated with molecular aberrations in genes commonly seen in myeloid neoplasia and morphological features of MDS, indicating that it should be considered an MDS-associated cytogenetic aberration.

HAEMATOLOGICA (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Jan P. Dumanski et al.

Summary: Epidemiological investigations have shown that mosaic loss of chromosome Y (LOY) in leukocytes is associated with increased mortality and morbidity in men. Studies on sorted and single cells revealed significant variations in the presence of LOY across cell types and individuals, suggesting potential pleiotropic effects on gene expression and immune function.

CELLULAR AND MOLECULAR LIFE SCIENCES (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Seyedeh M. Zekavat et al.

Summary: Research shows that mosaic chromosomal alterations in blood-derived DNA are associated with an increased risk of various infections, such as sepsis and pneumonia. These alterations may serve as markers of impaired immunity, leading to an increased predisposition to infections.

NATURE MEDICINE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health

Yajie Zhao et al.

Summary: The study identifies loss-of-function alleles in the GIGYF1 gene associated with six-fold higher susceptibility to both LOY and Type 2 Diabetes, as well as adverse metabolic health. This highlights a potential direct connection between clonal mosaicism and metabolic health.

NATURE COMMUNICATIONS (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

Jonas Mattisson et al.

Summary: The study found that the abundance of CD99 molecules on the surfaces of LOY cells was lower compared to cells without LOY in six types of leukocytes, while the abundance of CD proteins encoded by genes on autosomal chromosomes was not affected by LOY. These results reveal the impact of LOY on immune-related cellular properties, providing insights into the association between LOY and disease vulnerability in men.

SCIENTIFIC REPORTS (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Marcus Danielsson et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

添加到收藏夹

Article Oncology

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

Alejandro Caceres et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2020)

添加到收藏夹

Article Geriatrics & Gerontology

Extreme downregulation of chromosome Y and Alzheimer's disease in men

Alejandro Caceres et al.

NEUROBIOLOGY OF AGING (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

Y chromosome mosaicism is associated with age-related macular degeneration

Felix Grassmann et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

添加到收藏夹

Article Neurosciences

Somatic mosaicism of sex chromosomes in the blood and brain

Emma J. Graham et al.

BRAIN RESEARCH (2019)

添加到收藏夹

Article Multidisciplinary Sciences

Genetic predisposition to mosaic Y chromosome loss in blood

Deborah J. Thompson et al.

NATURE (2019)

添加到收藏夹

Article Multidisciplinary Sciences

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

Chikashi Terao et al.

NATURE COMMUNICATIONS (2019)

添加到收藏夹

Article Oncology

Mosaic Y Loss Is Moderately Associated with Solid Tumor Risk

Erikka Loftfield et al.

CANCER RESEARCH (2019)

添加到收藏夹

Article Biochemistry & Molecular Biology

KDM5D-mediated H3K4 demethylation is required for sexually dimorphic gene expression in mouse embryonic fibroblasts

Hayase Mizukami et al.

JOURNAL OF BIOCHEMISTRY (2019)

添加到收藏夹

Letter Genetics & Heredity

Mosaic loss of chromosome Y in leukocytes matters

Lars A. Forsberg et al.

NATURE GENETICS (2019)

添加到收藏夹

Article Multidisciplinary Sciences

Loss of chromosome Y in blood, but not in brain, of suicide completers

Atsushi Kimura et al.

PLOS ONE (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

Erikka Loftfield et al.

SCIENTIFIC REPORTS (2018)

添加到收藏夹

Article Cell Biology

Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining

Peter Ly et al.

NATURE CELL BIOLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

Mosaic chromosome Y loss and testicular germ cell tumor risk

Mitchell J. Machiela et al.

JOURNAL OF HUMAN GENETICS (2017)

添加到收藏夹

Letter Biotechnology & Applied Microbiology

Targeted Deletion of an Entire Chromosome Using CRISPR/Cas9

Fatwa Adikusuma et al.

MOLECULAR THERAPY (2017)

添加到收藏夹

Article Genetics & Heredity

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

Daniel J. Wright et al.

NATURE GENETICS (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Loss of Y Chromosome in Blood Is Associated With Major Cardiovascular Events During Follow-Up in Men After Carotid Endarterectomy

Saskia Haitjema et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

添加到收藏夹

Article Biotechnology & Applied Microbiology

CRISPR/Cas9-mediated targeted chromosome elimination

Erwei Zuo et al.

GENOME BIOLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Jan P. Dumanski et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

添加到收藏夹

Article Genetics & Heredity

Mosaic loss of chromosome Y is associated with common variation near TCL1A

Weiyin Zhou et al.

NATURE GENETICS (2016)

添加到收藏夹

Article Multidisciplinary Sciences

Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients

Predrag Noveski et al.

PLOS ONE (2016)

添加到收藏夹

Article Oncology

New Data Shed Light on Y-Loss-Related Pathogenesis in Myelodysplastic Syndromes

Christina Ganster et al.

GENES CHROMOSOMES & CANCER (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Smoking is associated with mosaic loss of chromosome Y

Jan P. Dumanski et al.

SCIENCE (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Origins and functional evolution of Y chromosomes across mammals

Diego Cortez et al.

NATURE (2014)

添加到收藏夹

Article Genetics & Heredity

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Lars A. Forsberg et al.

NATURE GENETICS (2014)

添加到收藏夹

Article Genetics & Heredity

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Daria Grafodatskaya et al.

BMC MEDICAL GENOMICS (2013)

添加到收藏夹

Article Immunology

Y chromosome loss in male patients with primary biliary cirrhosis

Ana Lleo et al.

JOURNAL OF AUTOIMMUNITY (2013)

添加到收藏夹

Review Genetics & Heredity

Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration

Doris Bachtrog

NATURE REVIEWS GENETICS (2013)

添加到收藏夹

Review Neurosciences

Origin and differentiation of microglia

Florent Ginhoux et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2013)

添加到收藏夹

Article Immunology

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

Luca Persani et al.

JOURNAL OF AUTOIMMUNITY (2012)

添加到收藏夹

Article Genetics & Heredity

Detectable clonal mosaicism and its relationship to aging and cancer

Kevin B. Jacobs et al.

NATURE GENETICS (2012)

添加到收藏夹

Article Neurosciences

Local self-renewal can sustain CNS microglia maintenance and function throughout adult life

Bahareh Ajami et al.

NATURE NEUROSCIENCE (2007)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.