Subtypes of HLA-B27: history and implications in the pathogenesis of ankylosing spondylitis

Adv Exp Med Biol. 2009:649:159-76. doi: 10.1007/978-1-4419-0298-6_12.

Abstract

HLA-B27 represents a family of 38 closely related cell surface proteins (encoded by the alleles HLA-B*2701-39) called subtypes of HLA-B27, most of which have evolved from the ubiquitous HLA-B*2705 (specifically the B*27052 allele). HLA-B27 subtypes are largely characterized by nucleotide substitutions (mostly nonsynonymous) in exons 2 and 3 which encode alpha1 and alpha2 domains ofthe peptide binding groove respectively. Table 1 shows the description of sequences of HLA-B27 allele sequences. The subtypes could have arisen from B*2705 by point mutation (B*2703, B*2709, B*2704), gene conversion (B*2701, B*2702, B*2708) and reciprocal recombination (B*2707) B*2706 could have arisen by interlocus gene conversion. Studies from different parts of the world reveal differences in the population distribution.

Publication types

  • Review

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Evolution, Molecular*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • HLA-B27 Antigen* / genetics
  • HLA-B27 Antigen* / immunology
  • Humans
  • Ligands
  • Membrane Transport Proteins / metabolism
  • Molecular Mimicry
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Protein Isoforms* / genetics
  • Protein Isoforms* / immunology
  • Sequence Alignment
  • Spondylitis, Ankylosing* / genetics
  • Spondylitis, Ankylosing* / immunology

Substances

  • HLA-B27 Antigen
  • Ligands
  • Membrane Transport Proteins
  • Protein Isoforms
  • tapasin