Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions

EA Lucotte, VB Guðmundsdóttir, JM Jensen… - Nature …, 2023 - nature.com
A major part of the human Y chromosome consists of palindromes with multiple copies of
genes primarily expressed in testis, many of which have been claimed to affect male fertility …

High levels of copy number variation of ampliconic genes across major human Y haplogroups

D Ye, AA Zaidi, M Tomaszkiewicz… - Genome biology and …, 2018 - academic.oup.com
Because of its highly repetitive nature, the human male-specific Y chromosome remains
understudied. It is important to investigate variation on the Y chromosome to understand its …

Identification of a Y chromosome haplogroup associated with reduced sperm counts

C Krausz, L Quintana-Murci, ERD Meyts… - Human Molecular …, 2001 - academic.oup.com
In man, infertility is associated with microdeletions of specific regions of the long arm of the Y
chromosome. This indicates that factors encoded by the Y chromosome are necessary for …

Increased somatic mosaicism in autosomal and X chromosomes for suicide death

I Otsuka, S Uchiyama, T Shirai, X Liu… - Molecular …, 2024 - nature.com
Mosaic chromosomal alterations (mCAs) are classified as mosaic deletions (loss), copy-
neutral loss of heterozygosity (CN-LOH), and duplications (gain), attracting special attention …

Mutation rates and fitness consequences of mosaic chromosomal alterations in blood

CJ Watson, JR Blundell - Nature genetics, 2023 - nature.com
Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades
before diagnosis. A quantitative understanding of the rate at which these events occur, and …

MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome

J Lange, H Skaletsky, GW Bell… - Nucleic acids research, 2007 - academic.oup.com
Y chromosome deletions arise frequently in human populations, where they cause sex
reversal and Turner syndrome and predispose individuals to infertility and germ cell cancer …

Roles of the Y chromosome genes in human cancers

T Kido, YFC Lau - Asian journal of andrology, 2015 - journals.lww.com
Male and female differ genetically by their respective sex chromosome composition, that is,
XY as male and XX as female. Although both X and Y chromosomes evolved from the same …

Genetics of autosomal mosaic chromosomal alteration (mCA)

X Liu, Y Kamatani, C Terao - Journal of Human Genetics, 2021 - nature.com
Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are
regarded as one of the common features of cancers. Strikingly, accumulating studies …

Investigation of chromosome Y loss in men with schizophrenia

T Hirata, A Hishimoto, I Otsuka, S Okazaki… - Neuropsychiatric …, 2018 - Taylor & Francis
Background Life expectancy is 10–20 years lower in patients with schizophrenia than in the
general population. In addition, men with schizophrenia have an earlier age at onset, more …

Human Y chromosome exerts pleiotropic effects on susceptibility to atherosclerosis

JM Eales, AA Maan, X Xu, T Michoel… - … , and vascular biology, 2019 - Am Heart Assoc
Objective: The male-specific region of the Y chromosome (MSY) remains one of the most
unexplored regions of the genome. We sought to examine how the genetic variants of the …