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Updated: Oct 25, 2025

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MR1 encompasses at least six allele groups with coding region alterations

Erik Rozemuller1, Sidonia Barbara Guiomar Eckle2, Ian McLaughlin3

  • 1GenDx, Utrecht, The Netherlands.

HLA
|August 5, 2021
PubMed

Insights

The MR1 gene, unlike classical HLA class I genes, shows significant genetic variation. Our study identified six MR1 allele groups and numerous single nucleotide polymorphisms (SNPs) and variants, indicating substantial MR1 diversity.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Human Leukocyte Antigen (HLA) research

Background:

  • Classical Human Leukocyte Antigen (HLA) class I genes are known for high polymorphism.
  • The Mucosal Associated Invariant Natural Killer T (MR1) cell gene was previously assumed to have limited polymorphic positions.

Purpose of the Study:

  • To investigate the extent of genetic variation within the MR1 gene.
  • To develop and utilize a specific PCR assay for MR1 gene sequencing.

Main Methods:

  • Development of a MR1-specific Polymerase Chain Reaction (PCR) assay.
  • Sequencing of 56 DNA samples from cells with diverse HLA genotypes.
  • Analysis of intronic single nucleotide polymorphisms (SNPs) and silent variants.

Main Results:

  • Identification of six distinct allele groups encoding different MR1 proteins within the tested panel.
  • The most frequent allele groups were MR1*01 (71%) and MR1*02 (25%).
  • Discovery of numerous intronic SNPs and silent variants, with some samples exhibiting up to 15 heterozygous positions.

Conclusions:

  • The MR1 gene exhibits marked genetic variation, contrary to previous assumptions.
  • The identified polymorphisms and variants highlight the need for considering MR1 diversity in immunological studies.
  • Further research is warranted to fully characterize MR1 polymorphism across diverse populations.
Keywords:
MHC class I-relatedMHC-I likeMR1 proteinhistocompatibility antigens class Iimmunotherapy

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