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EnglishHaemoglobin S (HbS; beta 6Glu -> Val) and HbC (beta 6Glu -> Lys) strongly protect against clinical Plasmodium falciparum malaria. HbS, which is lethal in homozygosity, has a multi-foci origin and a widespread geographic distribution in sub-Saharan Africa and Asia whereas HbC, which has no obvious CC segregational load, occurs only in a small area of central West-Africa. To address this apparent paradox, we adopted two partially independent haplotypic approaches in the Mossi population of Burkina Faso where both the local S (S-Benin) and the C alleles are common (0.05 and 0.13). Here we show that: both C and S-Benin are monophyletic; C has accumulated a 4-fold higher recombinational and DNA slippage haplotypic variability than the S-Benin allele (P = 0.003) implying higher antiquity; for a long initial lag period, the C alleles did apparently remain very few. These results, consistent with epidemiological evidences, imply that the C allele has been accumulated mainly through a recessive rather than a semidominant mechanism of selection. This evidence explains the apparent paradox of the uni-epicentric geographic distribution of HbC, representing a 'slow but gratis' genetic adaptation to malaria through a transient polymorphism, compared to the polycentric 'quick but costly' adaptation through balanced polymorphism of HbS.
| Tipologia: | Articolo su rivista |
| Citazione: | Modiano, D., Bancone, G., Ciminelli, B.M., Pompei, F., Blot, I., Impore, J., et al. (2008). Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. HUMAN MOLECULAR GENETICS, 17(6), 789-799. |
| IF: | Con Impact Factor ISI |
| Lingua: | English |
| Settore Scientifico Disciplinare: | Settore BIO/18 - Genetica |
| Revisione (peer review): | Sì, ma tipo non specificato |
| Tipo: | Articolo |
| Rilevanza: | Rilevanza internazionale |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1093/hmg/ddm350 |
| Stato di pubblicazione: | Pubblicato |
| Data di pubblicazione: | 2008 |
| Titolo: | Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria |
| Autori: | |
| Autori: | Modiano, D; Bancone, G; Ciminelli, BM; Pompei, F; Blot, I; Impore, J; Modiano, G |
| Appare nelle tipologie: | 01 - Articolo su rivista |
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| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Hum Mol Genet (2008) 17,789-99.pdf | N/A | Open Access Visualizza/Apri |
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