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Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean

Abstract:

Several human genetic disorders of hemoglobin have risen in frequency because of the protection they offer against death from malaria, sickle-cell anaemia 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 ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1073/pnas.0910840106

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Institution:
University of Oxford
Division:
MPLS
Department:
Zoology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MPLS
Department:
Zoology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MPLS
Department:
Zoology
Role:
Author
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Funding agency for:
Weatherall, D
More from this funder
Funding agency for:
Pybus, O
Publisher:
National Academy of Sciences of the United States Publisher's website
Journal:
Proceedings of the National Academy of Sciences of the United States of America Journal website
Volume:
106
Issue:
50
Pages:
21242-21246
Publication date:
2009-12-01
DOI:
EISSN:
1091-6490
Language:
English
Keywords:
Subjects:
UUID:
uuid:68c0d3da-e2af-477a-b125-b49f1150d95c
Local pid:
ora:5603
Deposit date:
2011-07-21

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