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

DJ Wright, FR Day, ND Kerrison, F Zink, A Cardona… - … genetics, 2017 - nature.com
… , suggesting that germline variation influencing mosaic chromosome loss can be detected
3 … Y chromosome loss, and we demonstrate that this approach successfully identifies genes

Chromosome Y genetic variants: impact in animal models and on human disease

JW Prokop, CF Deschepper - Physiological genomics, 2015 - journals.physiology.org
gene variants associate with regulatory changes in the expression of other autosomal genes,
… to greatly increase the identification of genetic variants on chrY, which promises that future …

Mosaic loss of human Y chromosome: what, how and why

X Guo, X Dai, T Zhou, H Wang, J Ni, J Xue, X Wang - Human genetics, 2020 - Springer
… , has been considered as a genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has
been … The known risk factors of mosaic LOY including age, genetic variants, ChrY structural …

The Y chromosome and its impact on health and disease

MA Wilson - Human Molecular Genetics, 2021 - academic.oup.com
… Y chromosome variation. The true role of the Y chromosome and associated genetic variants
Loss of the Y chromosome Loss of the Y chromosome is associated with increased risk of …

Structural variants: changing the landscape of chromosomes and design of disease studies

L Feuk, CR Marshall, RF Wintle… - … molecular genetics, 2006 - academic.oup.com
… structural variants might have adverse genetic consequences. We also discuss why analysis
of structural variants should become a vital step in any genetic … Gains or losses affecting the …

Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
… the absence of a Y chromosome provides a selective growth … the loss of a putative Y-linked
cell-growth suppressor gene; loss of a … To identify individual genetic variants that underlie this …

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

W Zhou, MJ Machiela, ND Freedman, N Rothman… - … genetics, 2016 - nature.com
loss of the Y chromosome in a subset of cells while the remainder of cells retain the normal
chromosome… lose all or some portion of the Y chromosome over the course of their lifetime 1 . …

[HTML][HTML] Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

T Sahoo, N Dzidic, MN Strecker, S Commander… - Genetics in …, 2017 - Elsevier
… pregnancy loss. The single most common cause of early (first-trimester) … loss is the presence
of a major fetal chromosomal abnormality, which is responsible for more than 50% of losses

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

N Machev, N Saut, G Longepied, P Terriou… - … of medical genetics, 2004 - jmg.bmj.com
… summary of the Y chromosome variants defined in this study, … any DAZ gene copy loss
without sY587 SFV loss shows that … the two sY587 sites of each DAZ gene pair. In contrast, the …

Mosaic loss of chromosome Y in leukocytes matters

LA Forsberg, J Halvardson, E Rychlicka-Buniowska… - Nature Genetics, 2019 - nature.com
… found associations between loss of chromosome Y (LOY) in … phenotypic effects from
postzygotic genetic variation might be … in leukocytes, resulting in loss of statistical power and false-…