The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution

Blood. 2010 Mar 11;115(10):2073-6. doi: 10.1182/blood-2009-11-248336. Epub 2009 Dec 29.

Abstract

The molecular basis of the HNA-3a/b (5b/a) leukocyte antigen system has not yet been defined despite evidence that HNA-3a-specific antibodies are particularly prone to cause severe, often fatal, transfusion-related lung injury. We used genome-wide single nucleotide polymorphism scanning and sequencing of DNA from persons of different HNA-3a/b phenotypes to identify a single single nucleotide polymorphism in exon 7 of the CLT2 gene (SLC44A2) that predicts an amino acid substitution in the first extracellular loop of choline transporter-like protein 2, a member of the choline transporter-like protein family of membrane glycoproteins, and correlates perfectly with HNA-3a/b phenotypes (R154 encodes HNA-3a; Q154 encodes HNA-3b). Mass spectrometric analysis of proteins immunoprecipitated from leukocytes by anti-HNA-3a provided direct evidence that anti-HNA-3a recognizes choline transporter-like protein 2. These findings will enable large-scale genotyping for HNA-3a/b to identify blood donors at risk to have HNA-3a-specific antibodies and should facilitate development of practical methods to detect such antibodies and prevent transfusion-related lung injury.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution / genetics
  • Amino Acid Substitution / physiology
  • Arginine / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Genome-Wide Association Study
  • Glutamic Acid / genetics
  • Humans
  • Isoantigens / genetics*
  • Isoantigens / immunology
  • Isoantigens / metabolism
  • Mass Spectrometry
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / immunology
  • Membrane Glycoproteins / metabolism
  • Membrane Transport Proteins / genetics*
  • Membrane Transport Proteins / immunology
  • Membrane Transport Proteins / metabolism
  • Molecular Sequence Data
  • Mutant Proteins / immunology
  • Mutant Proteins / metabolism
  • Neutrophils / immunology*
  • Neutrophils / metabolism*
  • Polymorphism, Single Nucleotide / physiology

Substances

  • HNA-3a antigen, human
  • Isoantigens
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Mutant Proteins
  • SLC44A2 protein, human
  • Glutamic Acid
  • Arginine