Summary
We compared a pair of approximately 650 kb DNA sequences in the human leukocyte antigen (HLA) class I region located on chromosome 6p21.3. It is immediately apparent that the extent of polymorphism varies greatly within the class I region of 1.8 Mb. As repeatedly noted, DNA polymorphism is extremely high at the three class Ia loci (HLA-A, -B, and -C) owing to balancing selection. However, the intergenic subregion between the HLA-B and HLA-C loci is even more polymorphic than the class Ia loci themselves. Although there are a number of repetitive sequences and retro-transposable insertions in the HLA-B/C intergenic subregion, none of them appear to be particularly responsible for the elevated polymorphism in the subregion. Nevertheless, the hitch-hiking effect of balanced class la loci on linked subregions is evident: as the physical map distance from a class Ia locus increases, the extent of polymorphism decreases rather sharply to the level observed at non-HLA loci. The decreasing rate is subregion-specific, suggesting that the recombination rate is also subregion-specific. Based on a population genetics model of the human demographic history, we have inferred the recombination rate in a subregion either telomeric or centromeric to each of the three class Ia loci. Some subregions are consistent with the genome-wide average rate of recombination (1 cM per Mb), but two other subregions, telomeric to the HLA-A locus and centromeric to the HLA-B locus, are considerably suppressed in recombination.
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Satta, Y., Takahata, N. (2000). Polymorphism in the HLA class I region. In: Kasahara, M. (eds) Major Histocompatibility Complex. Springer, Tokyo. https://doi.org/10.1007/978-4-431-65868-9_12
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DOI: https://doi.org/10.1007/978-4-431-65868-9_12
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