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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.

The journal is calling for submissions to this series that explore the role of the Y chromosome in development and disease and is especially interested in manuscripts 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

Deadline for submission is September 1, 2021.
Submit your manuscript here.

  1. 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

    Content type: Research

    Published on:

  2. 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

    Content type: Review

    Published on:

  3. 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

    Content type: Review

    Published on: