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Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency

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Abstract

Adrenal 21-hydroxylase deficiency is strongly associated with HLA-Bw47. This rare HLA allele and the HLA-B13 allele are both found in positive genetic linkage disequilibrium with HLA-A3, -Cw6, -DR7 and also display serological cross-reactivity. To investigate the relationship between these two alleles at the structural level, the nucleotide sequences of the HLA-B13 and HLA-Bw47 genes have been determined. They differ by 28 nucleotides, resulting in 14 amino acid substitutions: 5 in the α1 domain, 8 in the α2 domain, and 1 in the transmembrane region. Comparison of HLA-Bw47 nucleotide sequence with other HLA-B sequences shows a segment of 228 by identical with B44 in the a 1 domain and a segment of 218 by identical with B27 in the a2 domain, but only a 91 by segment of identity with B13 in the al domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event.

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Authors and Affiliations

  1. Human Immunogenetics Laboratory, Sloan Kettering Institute for Cancer Research, 1275 York Avenue, 10021, New York, NY, USA

    Jacqueline Zemmour & Bo Dupont

  2. Department of Cell Biology, Stanford University, 94305, Stanford, CA, USA

    Peter D. Ennis & Peter Parham

Authors
  1. Jacqueline Zemmour
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  2. Peter D. Ennis
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  3. Peter Parham
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  4. Bo Dupont
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Zemmour, J., Ennis, P.D., Parham, P. et al. Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency. Immunogenetics 27, 281–287 (1988). https://doi.org/10.1007/BF00376123

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  • DOI: https://doi.org/10.1007/BF00376123

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