An unusual variant glycophorin expressing protease-resistant M antigen encoded by the GYPB-E(2-4)-B hybrid gene

Hatsue Tsuneyama1,2, Kazumi Isa2, Naoko Watanabe-Okochi1

  • 1Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.

Vox Sanguinis
|April 22, 2020
PubMed
Abstract

Insights

A novel MNS blood group glycophorin, resistant to protease, was identified in 0.0534% of the Japanese population. This M-active glycophorin is encoded by a newly discovered GYPB-E(2-4)-B hybrid gene.

Area of Science:

  • Genetics
  • Immunology
  • Hematology

Background:

  • The MNS blood group system is highly polymorphic, with antigens potentially arising from gene recombination.
  • The GYPE gene shares high homology with the GYPA*01 allele, contributing to the M antigen.
  • An unusual glycophorin molecule exhibiting protease-resistant M antigen was investigated.

Purpose of the Study:

  • To investigate an unusual glycophorin molecule with protease-resistant M antigen.
  • To characterize the genetic basis of this M-active glycophorin.
  • To determine the prevalence of this M-active glycophorin in the Japanese population.

Main Methods:

  • Automated blood typing and immunoblotting were used to screen and analyze M-positive red blood cells.
  • Polymerase chain reaction (PCR), cloning, and sequencing were employed to analyze GYPA, GYPB, and GYPE genes from reticulocyte mRNA and genomic DNA.

Main Results:

  • A protease-resistant M-active glycophorin (20 kDa) was found in 0.0534% of individuals, all of whom were S+s- or S-s+.
  • A novel GYPE-B hybrid transcript was identified in individuals expressing the M-active glycophorin.
  • Genomic analysis revealed a GYPB-E(2-4)-B hybrid gene encoding a 59-amino-acid glycoprotein lacking S or s antigens.

Conclusions:

  • The M-active glycophorin (20 kDa) has a prevalence of 0.0534% in the Japanese population.
  • This glycophorin is a 59 amino acid polypeptide.
  • The M-active glycophorin is encoded by a novel GYPB-E(2-4)-B hybrid gene.