Primate DRB6 pseudogenes

clue to the evolutionary origin of the HLA-DR2 haplotype

Felipe Figueroa, Colm O'h Uigin, Hidetoshi Inoki, Jan Klein

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

The HLA-DR2 haplotype contains three \-chain encoding DRB genes and one α-chain encoding DRA gene. Of the three DRB genes, two are presumably functional (HLA-DRB1 and HLA-DRB5), whereas the third (HLA-DRBV1) is a pseudogene. A pseudogene closely related to HLA-DRBVI is present in the chimpanzee (Patr-DRB6) and in the gorilla (Gogo-DRB6). We sequenced the HLA-DRBVI and Patr-DRB6 pseudogenes (all exons and most of the introns), and compared the sequence to that of the Gogo-DRB6 gene (of which only the exon sequence is available). All three pseudogenes seem to lack exon 1 and contain other deletions responsible for shifts in the translational reading frame. At least the HLA-DRBVI pseudogene, however, seems to be transcribed nevertheless. The chimpanzee pseudogene contains two inserts in intron 2, one of which is an Alu repeat belonging to the Sb subfamily, while the other remains unidentified. These inserts are lacking in the human gene. A comparison with sequences published by other investigators revealed the presence of the HLA-DRBVI pseudogene also in the DRI and DRw10 haplotypes. Measurements of genetic distances indicate DRB6 to be closely related to the DRB2 pseudogene and to the HLA-DRB4 functional gene. In humans, gorillas, and chimpanzees, the DRB6 pseudogene is associated with the same functional gene (DRB5) indicating that this linkage disequilibrium is at least six million years old and that DR2 is one of the oldest DR haplotypes in higher primates.

Original languageEnglish (US)
Pages (from-to)324-337
Number of pages14
JournalImmunogenetics
Volume34
Issue number5
DOIs
StatePublished - Jan 1 1991

Fingerprint

HLA-DR2 Antigen
Pseudogenes
Haplotypes
Primates
Pan troglodytes
Genes
Dichlororibofuranosylbenzimidazole
Gorilla gorilla
Exons
HLA-DRB4 Chains
Introns
HLA-DRB5 Chains
HLA-DRB1 Chains
Reading Frames
Linkage Disequilibrium
Research Personnel

All Science Journal Classification (ASJC) codes

  • Immunology
  • Genetics

Cite this

Figueroa, Felipe ; O'h Uigin, Colm ; Inoki, Hidetoshi ; Klein, Jan. / Primate DRB6 pseudogenes : clue to the evolutionary origin of the HLA-DR2 haplotype. In: Immunogenetics. 1991 ; Vol. 34, No. 5. pp. 324-337.
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abstract = "The HLA-DR2 haplotype contains three \-chain encoding DRB genes and one α-chain encoding DRA gene. Of the three DRB genes, two are presumably functional (HLA-DRB1 and HLA-DRB5), whereas the third (HLA-DRBV1) is a pseudogene. A pseudogene closely related to HLA-DRBVI is present in the chimpanzee (Patr-DRB6) and in the gorilla (Gogo-DRB6). We sequenced the HLA-DRBVI and Patr-DRB6 pseudogenes (all exons and most of the introns), and compared the sequence to that of the Gogo-DRB6 gene (of which only the exon sequence is available). All three pseudogenes seem to lack exon 1 and contain other deletions responsible for shifts in the translational reading frame. At least the HLA-DRBVI pseudogene, however, seems to be transcribed nevertheless. The chimpanzee pseudogene contains two inserts in intron 2, one of which is an Alu repeat belonging to the Sb subfamily, while the other remains unidentified. These inserts are lacking in the human gene. A comparison with sequences published by other investigators revealed the presence of the HLA-DRBVI pseudogene also in the DRI and DRw10 haplotypes. Measurements of genetic distances indicate DRB6 to be closely related to the DRB2 pseudogene and to the HLA-DRB4 functional gene. In humans, gorillas, and chimpanzees, the DRB6 pseudogene is associated with the same functional gene (DRB5) indicating that this linkage disequilibrium is at least six million years old and that DR2 is one of the oldest DR haplotypes in higher primates.",
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Figueroa, F, O'h Uigin, C, Inoki, H & Klein, J 1991, 'Primate DRB6 pseudogenes: clue to the evolutionary origin of the HLA-DR2 haplotype', Immunogenetics, vol. 34, no. 5, pp. 324-337. https://doi.org/10.1007/BF00211996

Primate DRB6 pseudogenes : clue to the evolutionary origin of the HLA-DR2 haplotype. / Figueroa, Felipe; O'h Uigin, Colm; Inoki, Hidetoshi; Klein, Jan.

In: Immunogenetics, Vol. 34, No. 5, 01.01.1991, p. 324-337.

Research output: Contribution to journalArticle

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