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The Human Y Chromosome in Health and Disease

RED chromosome picture
The Y and X chromosome originated from a pair of identical chromosomes in which the Y chromosome acquired a sex determining gene and specialized in various male-specific functions while the other homologue likely maintained most of the genetic content of the ancestral chromosome and evolved to be the X chromosome. Historically, the Y chromosome was considered to be the most gene-poor chromosome in the human genome and postulated to serve only the sex determination and a few male-specific functions. However, recent sequencing, genome-wide association studies and functional analyses suggest that genes on the Y chromosome could have diverse roles in development, physiology and diseases, including male-specific functions in non-gonadal tissues as well as dosage-dependent functions with their respective X-homologues. Significantly, mosaic loss of the Y chromosome could contribute to disease susceptibility to various human diseases, such as Alzheimer’s disease, cardiovascular disease and various cancers.  Such genetic predispositions and male-specific actions in various tissues suggest that the Y chromosome may play a key role in sex differences in normal development/physiology and diseases.

We are excited to publish a new series that explores the role of the Y chromosome in development and disease focused, with a special focus on the following topics:

  • Functions of the human Y chromosome genes in non-gonadal tissues
  • Mechanisms of Y chromosome genes in sex differences in human diseases
  • Animal models that study the roles of Y chromosome genes in pathogenesis
  • Evolutionary aspects of the Y chromosome functions
  • Y haplotypes and human disease

Series Editors:

Fadi Charchar, Federation University, Australia
Chris Lau, University of California-San Francisco, USA
Tatsuo Kido, University of California-San Francisco, USA

  1. Age-related macular degeneration (AMD) is the leading cause of severe vision loss in patients over 55 years old in the industrialized world. In the past 20 years, approximately 288 million patents have been af...

    Authors: Qinchun Duan, Yuru Gao, Xixi Cao, Shulin Wang, MengMeng Xu, Odell D. Jones and Xuehong Xu
    Citation: Cell & Bioscience 2022 12:73
  2. Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important f...

    Authors: Raheleh Heydari, Zohreh Jangravi, Samaneh Maleknia, Mehrshad Seresht-Ahmadi, Zahra Bahari, Ghasem Hosseini Salekdeh and Anna Meyfour
    Citation: Cell & Bioscience 2022 12:4
  3. Mosaic loss of Y chromosome (LOY) is the most common somatic change that occurs in circulating white blood cells of older men. LOY in leukocytes is associated with increased risk for all-cause mortality and a ...

    Authors: Moeen Riaz, Jonas Mattisson, Galina Polekhina, Andrew Bakshi, Jonatan Halvardson, Marcus Danielsson, Adam Ameur, John McNeil, Lars A. Forsberg and Paul Lacaze
    Citation: Cell & Bioscience 2021 11:205
  4. Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many individuals with detectable mCAs have no notable a...

    Authors: Shu-Hong Lin, Derek W. Brown, Brandon Rose, Felix Day, Olivia W. Lee, Sairah M. Khan, Jada Hislop, Stephen J. Chanock, John R. B. Perry and Mitchell J. Machiela
    Citation: Cell & Bioscience 2021 11:143
  5. Genomic AZFb deletions in Yq11 coined “classical” (i.e. length of Y DNA deletion: 6.23 Mb) are associated with meiotic arrest (MA) of patient spermatogenesis, i.e., absence of any postmeiotic germ cells. These AZ...

    Authors: P. H. Vogt, U. Bender, B. Deibel, F. Kiesewetter, J. Zimmer and T. Strowitzki
    Citation: Cell & Bioscience 2021 11:60
  6. Sex differences are prevalent in normal development, physiology and disease pathogeneses. Recent studies have demonstrated that mosaic loss of Y chromosome and aberrant activation of its genes could modify the...

    Authors: Yun-Fai Chris Lau
    Citation: Cell & Bioscience 2020 10:97