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 … , we identify 50 independent genetic markers in 46 loci associated …

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
… how ChrY is prone to loss. Finally, we assess future directions for mosaic LOY studies from
a … In summary, human ChrY may have a magnified effect on men beyond sex determination …

Effects of population dynamics on genetics in mosaic landscapes

DE McCauley - Mosaic landscapes and ecological processes, 1995 - Springer
… the loss of genetic variation is a two stage process - loss from within populations and loss
for a period sufficient for the expression of genetic effects of population turnover. In contrast, …

Mosaic loss of chromosome Y in leukocytes matters

LA Forsberg, J Halvardson, E Rychlicka-Buniowska… - Nature Genetics, 2019 - nature.com
mosaic LOY … effects from postzygotic genetic variation might be fundamentally unsound,
especially when considering that the LOY frequency in buccal mucosa and the phenotypic effect

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

W Zhou, MJ Machiela, ND Freedman, N Rothman… - … genetics, 2016 - nature.com
mosaic mutations at the base-pair level 21,22,23 . Although each of these studies of mosaic
CNVs, mosaic uniparental disomies, mosaic … that the frequency of mosaic events—both large …

Mosaic analysis

RK Herman - Methods in cell biology, 1995 - Elsevier
Genetic procedures for generating genetic mosaics, as … than mosaics), generally involve
the loss of a wild-type gene from a … effect may nonetheless be demonstrated by making use of …

Genetic predisposition to mosaic Y chromosome loss in blood

DJ Thompson, G Genovese, J Halvardson, JC Ulirsch… - Nature, 2019 - nature.com
… We used two approaches to map associated genetic variants to genes via expression
effects (eQTLs) in whole blood. First, summary Mendelian randomization (SMR) uses summary-…

[HTML][HTML] Association of mosaic loss of chromosome Y with lung cancer risk and prognosis in a Chinese population

N Qin, N Li, C Wang, Z Pu, Z Ma, G Jin, M Zhu… - Journal of Thoracic …, 2019 - Elsevier
… We provide the 14 mLOY-related genetic variants and their effect on lung cancer risk from
our lung cancer GWAS data in Supplementary Table 3. We performed a logistic regression …

[HTML][HTML] The Clinical Spectrum of Mosaic Genetic Disease

H Geiger, Y Furuta, S van Wyk, JA Phillips III, RJ Tinker - Genes, 2024 - mdpi.com
… survival from genetic severe disorders that would be lethal in a non-mosaic form. On the
milder end of the spectrum, mosaicism can result in little if any phenotypic effects but increases …

Mosaic loss of the Y chromosome and men's health

M Fukami, M Miyado - Reproductive Medicine and Biology, 2022 - Wiley Online Library
… The aberrant expression of TCL1A or other autosomal genes may exert deleterious effects
phenotype Unclear Mosaic loss of spermatogenic genes in the gonad Mosaic loss of SHOX in …