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 …
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 …
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
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 …
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 …
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 …
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
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 …
reversal and Turner syndrome and predispose individuals to infertility and germ cell cancer …
Roles of the Y chromosome genes in human cancers
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 …
XY as male and XX as female. Although both X and Y chromosomes evolved from the same …
Genetics of autosomal mosaic chromosomal alteration (mCA)
Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are
regarded as one of the common features of cancers. Strikingly, accumulating studies …
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 …
general population. In addition, men with schizophrenia have an earlier age at onset, more …
Human Y chromosome exerts pleiotropic effects on susceptibility to atherosclerosis
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 …
unexplored regions of the genome. We sought to examine how the genetic variants of the …