Diversity associated with the second expressed HLA-DRB locus in the human population

Immunogenetics. 1997;46(2):104-10. doi: 10.1007/s002510050248.

Abstract

Although diversity within the HLA-DRB region is predominantly focused in the DRB1 gene, the second expressed DRB loci, DRB3, DRB4, and DRB5, also exhibit variation. Within DRB1(*)15 or DRB1(*)16 haplotypes, four new variants were identified: 1) two new DRB5 alleles, DRB5*0104 and DRB5*0204, 2) a haplotype carrying a DRB1(*)15 or *16 allele without the usual accompanying DRB5 allele, and 3) a haplotype carrying a DRB5(*)0101 allele without a DRB1(*)15 or *16 allele. The evolutionary origins of these haplotypes were postulated based on their associations with the DRB6 pseudogene. Within HLA haplotypes which carry DRB3, a new DRB3(*)0205 allele and one unusual DRB3 association were identified. Finally, two new null DRB4 alleles are described: DRB4(*)0201N, which exhibits a deletion in the second exon, and a second allele, DRB4(*)null, which lacks the second exon completely. Gene conversion-like events and variation in the number of functional genes through reciprocal recombination and inactivation contribute to the diversity observed in the second expressed HLA-DRB loci.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles*
  • Base Sequence
  • Genetic Variation*
  • HLA-DR Antigens / genetics*
  • Humans
  • Molecular Sequence Data

Substances

  • HLA-DR Antigens

Associated data

  • GENBANK/U31770
  • GENBANK/U36826
  • GENBANK/U50061
  • GENBANK/U70542
  • GENBANK/U70543
  • GENBANK/U70544
  • GENBANK/U70545