Data from: Population-specific recombination sites within the human MHC region

Genetic rearrangement by recombination is one of the major driving forces
for genome evolution and recombination are known to occur in non-random,
discreet recombination sites within the genome. Mapping of recombination
sites have proved difficult particularly in the human MHC region that is
complicated by both population variation and highly polymorphic HLA genes.
To overcome these problems, HLA typed individuals from three
representative populations: Asian, European and African were used to
generate phased HLA haplotypes. Extended haplotype homozygosity (EHH)
plots constructed from the phased haplotype data revealed discreet EHH
drops corresponding to recombination events and these signatures were
observed to be different for each population. Surprisingly, the majority
of recombination sites detected are unique to each population rather than
being common. Unique recombination sites account for 56.8% (21/37 of total
sites) in the Asian cohort, 50.0% (15/30 sites) in Europeans and 63.2%
(24/38 sites) in Africans. Validation carried out at a known sperm typing
recombination site of 45kb (HLA-F Telomeric) showed that EHH was an
efficient method to narrow the recombination region to 826bp and this was
further refined to 660bp by re-sequencing. This approach significantly
enhanced mapping of the genomic architecture within the human MHC will be
useful in studies to identify disease risk genes.