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Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean
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Penman, Bridget S., Pybus, Oliver G., Weatherall, David J. and Gupta, Sunetra (2009) Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean. Proceedings of the National Academy of Sciences of the United States of America, 106 (50). pp. 21242-21246. doi:10.1073/pnas.0910840106
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Official URL: http://dx.doi.org/10.1073/pnas.0910840106
Abstract
Several human genetic disorders of hemoglobin have risen in frequency because of the protection they offer against death from malaria, sickle-cell anemia being a canonical example. Here we address the issue of why this highly protective mutant, present at high frequencies in subSaharan Africa, is uncommon in Mediterranean populations that instead harbor a diverse range of thalassemic hemoglobin disorders. We demonstrate that these contrasting profiles of malaria-protective alleles can arise and be stably maintained by two well-documented phenomena: an alleviation of the clinical severity of α- and β-thalassemia in compound thalassemic genotypes and a cancellation of malaria protection when α-thalassemia and the sickle-cell trait are coinherited. The complex distribution of globin mutants across Africa and the Mediterranean can therefore be explained by their specific intracellular interactions.
| Item Type: | Journal Article | ||||||
|---|---|---|---|---|---|---|---|
| Divisions: | Faculty of Science > Life Sciences (2010- ) | ||||||
| Journal or Publication Title: | Proceedings of the National Academy of Sciences of the United States of America | ||||||
| Publisher: | National Academy of Sciences | ||||||
| ISSN: | 0027-8424 | ||||||
| Official Date: | 1 December 2009 | ||||||
| Dates: |
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| Volume: | 106 | ||||||
| Number: | 50 | ||||||
| Page Range: | pp. 21242-21246 | ||||||
| DOI: | 10.1073/pnas.0910840106 | ||||||
| Status: | Peer Reviewed | ||||||
| Publication Status: | Published | ||||||
| Access rights to Published version: | Restricted or Subscription Access |
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