SUPR
LOY in single cells
Dnr:

sens2020004

Type:

SNIC SENS

Principal Investigator:

Jan Dumanski

Affiliation:

Uppsala universitet

Start Date:

2020-03-16

End Date:

2025-04-01

Primary Classification:

10605: Immunology (medical to be 30110 and agricultural to be 40302)

Webpage:

Allocation

  • Castor /proj at UPPMAX: 30000 GiB
  • Cygnus /proj at UPPMAX: 30000 GiB
  • Castor /proj/nobackup at UPPMAX: 10000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 10000 GiB
  • Bianca at UPPMAX: 10 x 1000 core-h/month

Abstract

Mosaic loss of chromosome Y (LOY) in leukocytes has been associated with many diseases, yet it remains unclear whether this form of clonal mosaicism exerts a direct physiological effect. Here we perform single-cell and bulk RNA sequencing in leukocytes, observing considerable variation in the rate of LOY across individuals, cell types and disease state. Cells with LOY demonstrated a profound degree of transcriptional dysregulation, impacting ~500 autosomal genes. These genes are preferentially involved in immune functions but also encode proteins with roles in other diverse biological processes. Our findings highlight a surprisingly broad role for chromosome Y, challenging the view of it as a “genetic wasteland”. Furthermore, they support the hypothesis that altered immune function in leukocytes is a mechanism directly linking LOY to disease.