Mosaic loss of human Y chromosome: what, how and why
Y chromosome (ChrY), the male-specific sex chromosome, has been considered as a
genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has been known for more than …
genetic wasteland. Aging-related mosaic loss of ChrY (LOY) has been known for more than …
Chromosome instability, aging and brain diseases
Chromosome instability (CIN) has been repeatedly associated with aging and progeroid
phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic …
phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic …
Mosaic loss of Chromosome Y in aged human microglia
MC Vermeulen, R Pearse, T Young-Pearse… - Genome …, 2022 - genome.cshlp.org
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 …
leukocytes of aging men that is correlated with several age-related diseases, including …
Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations
One of the most curious findings emerged from genome-wide studies over the last decade
was that genetic mosaicism is a dominant feature of human ageing genomes. The clonal …
was that genetic mosaicism is a dominant feature of human ageing genomes. The clonal …
Large mosaic copy number variations confer autism risk
MA Sherman, RE Rodin, G Genovese, C Dias… - Nature …, 2021 - nature.com
Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
YA Jakubek, Y Zhou, A Stilp, J Bacon, JW Wong… - Nature …, 2023 - nature.com
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers
for a host of human diseases. Here, to gain a better understanding of mCA rates in …
for a host of human diseases. Here, to gain a better understanding of mCA rates in …
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
SG Vorsanova, IA Demidova, AD Kolotii… - Molecular …, 2022 - Springer
Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder
associated with an extra X chromosome in males. Regardless of numerous studies …
associated with an extra X chromosome in males. Regardless of numerous studies …
Sex-limited chromosomes and non-reproductive traits
Sex chromosomes are typically viewed as having originated from a pair of autosomes, and
differentiated as the sex-limited chromosome (eg Y) has degenerated by losing most genes …
differentiated as the sex-limited chromosome (eg Y) has degenerated by losing most genes …
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
SG Vorsanova, AD Kolotii, OS Kurinnaia… - Molecular …, 2021 - Springer
Background Turner's syndrome is associated with either monosomy or a wide spectrum of
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …
The X files:“The mystery of X chromosome instability in Alzheimer's disease”
VP Bajic, M Essack, L Zivkovic, A Stewart… - Frontiers in …, 2020 - frontiersin.org
Alzheimer's disease (AD) is a neurodegenerative disease that affects millions of individuals
worldwide and can occur relatively early or later in life. It is well known that genetic …
worldwide and can occur relatively early or later in life. It is well known that genetic …