Identification of Siglec-1 null individuals infected with HIV-1

Nat Commun. 2016 Aug 11:7:12412. doi: 10.1038/ncomms12412.

Abstract

Siglec-1/CD169 is a myeloid-cell surface receptor critical for HIV-1 capture and infection of bystander target cells. To dissect the role of SIGLEC1 in natura, we scan a large population genetic database and identify a loss-of-function variant (Glu88Ter) that is found in ∼1% of healthy people. Exome analysis and direct genotyping of 4,233 HIV-1-infected individuals reveals two Glu88Ter homozygous and 97 heterozygous subjects, allowing the analysis of ex vivo and in vivo consequences of SIGLEC1 loss-of-function. Cells from these individuals are functionally null or haploinsufficient for Siglec-1 activity in HIV-1 capture and trans-infection ex vivo. However, Siglec-1 protein truncation does not have a measurable impact on HIV-1 acquisition or AIDS outcomes in vivo. This result contrasts with the known in vitro functional role of Siglec-1 in HIV-1 trans-infection. Thus, it provides evidence that the classical HIV-1 infectious routes may compensate for the lack of Siglec-1 in fuelling HIV-1 dissemination within infected individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • CD4-Positive T-Lymphocytes / metabolism
  • Cell Lineage
  • Dendritic Cells / metabolism
  • Disease Progression
  • Exome
  • Exons
  • Female
  • Genetics, Population
  • Genotype
  • HIV Infections / genetics*
  • HIV-1
  • Heterozygote
  • Homozygote
  • Humans
  • Leukocytes, Mononuclear / metabolism
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Prospective Studies
  • Sialic Acid Binding Ig-like Lectin 1 / genetics*
  • Switzerland
  • United States

Substances

  • SIGLEC1 protein, human
  • Sialic Acid Binding Ig-like Lectin 1