Mosaic loss of Y chromosome is associated with aging and epithelial injury in chronic kidney disease

PC Wilson, A Verma, Y Yoshimura, Y Muto, H Li… - Genome biology, 2024 - Springer
Background Mosaic loss of Y chromosome (LOY) is the most common chromosomal
alteration in aging men. Here, we use single-cell RNA and ATAC sequencing to show that …

Alteration of human blood cell transcriptome in uremia

A Scherer, OP Günther, RF Balshaw, Z Hollander… - BMC medical …, 2013 - Springer
Background End-stage renal failure is associated with profound changes in physiology and
health, but the molecular causation of these pleomorphic effects termed “uremia” is poorly …

Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type

I Franco, HT Helgadottir, A Moggio, M Larsson… - Genome biology, 2019 - Springer
Background The lifelong accumulation of somatic mutations underlies age-related
phenotypes and cancer. Mutagenic forces are thought to shape the genome of aging cells in …

Single cell transcriptional and chromatin accessibility profiling redefine cellular heterogeneity in the adult human kidney

Y Muto, PC Wilson, N Ledru, H Wu, H Dimke… - Nature …, 2021 - nature.com
The integration of single cell transcriptome and chromatin accessibility datasets enables a
deeper understanding of cell heterogeneity. We performed single nucleus ATAC (snATAC …

Chromatin architecture reveals cell type-specific target genes for kidney disease risk variants

A Duan, H Wang, Y Zhu, Q Wang, J Zhang, Q Hou… - BMC biology, 2021 - Springer
Background Cell type-specific transcriptional programming results from the combinatorial
interplay between the repertoire of active regulatory elements. Disease-associated variants …

Defining cell-type specificity at the transcriptional level in human disease

W Ju, CS Greene, F Eichinger, V Nair… - Genome …, 2013 - genome.cshlp.org
Cell-lineage–specific transcripts are essential for differentiated tissue function, implicated in
hereditary organ failure, and mediate acquired chronic diseases. However, experimental …

[HTML][HTML] Uncovering genetic mechanisms of kidney aging through transcriptomics, genomics, and epigenomics

J Rowland, A Akbarov, J Eales, X Xu, JP Dormer… - Kidney international, 2019 - Elsevier
Nephrons scar and involute during aging, increasing the risk of chronic kidney disease. Little
is known, however, about genetic mechanisms of kidney aging. We sought to define the …

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

C Terao, Y Momozawa, K Ishigaki, E Kawakami… - Nature …, 2019 - nature.com
Mosaic loss of chromosome Y (mLOY) is frequently observed in the leukocytes of ageing
men. However, the genetic architecture and biological mechanisms underlying mLOY are …

Loss of chromosome Y in regulatory T cells

J Mattisson, J Halvardson, H Davies… - BMC genomics, 2024 - Springer
Background Mosaic loss of chromosome Y (LOY) in leukocytes is the most prevalent somatic
aneuploidy in aging humans. Men with LOY have increased risks of all-cause mortality and …

A roadmap for the genetic analysis of renal aging

GA Noordmans, JL Hillebrands, H van Goor… - Aging …, 2015 - Wiley Online Library
Several studies show evidence for the genetic basis of renal disease, which renders some
individuals more prone than others to accelerated renal aging. Studying the genetics of …