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Tracing the evolutionary path of the CCR5delta32 deletion via ancient and modern genomes

2023-06-20 genetic and genomic medicine Title + abstract only
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The chemokine receptor variant CCR5delta32 is linked to HIV-1 infection resistance and other pathological conditions. In European populations, the allele frequency ranges from 10-16%, and its evolution has been extensively debated throughout the years. We provide a detailed perspective of the evolutionary history of the deletion through time and space. We discovered that the CCR5delta32 allele arose on a pre-existing haplotype consisting of 84 variants. Using this information, we developed a hap...

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