Publication: Genetic diversity in human erythrocyte pyruvate kinase
Issued Date
2012-01-01
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ISSN
14765470
14664879
14664879
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2-s2.0-84855933900
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Mahidol University
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SCOPUS
Bibliographic Citation
Genes and Immunity. Vol.13, No.1 (2012), 98-102
Suggested Citation
J. Berghout, S. Higgins, C. Loucoubar, A. Sakuntabhai, K. C. Kain, P. Gros Genetic diversity in human erythrocyte pyruvate kinase. Genes and Immunity. Vol.13, No.1 (2012), 98-102. doi:10.1038/gene.2011.54 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/13868
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Title
Genetic diversity in human erythrocyte pyruvate kinase
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Abstract
Previously, we have shown that pyruvate kinase, liver and red cell isoform (PKLR) deficiency protects mice in vivo against blood-stage malaria, and observed that reduced PKLR function protects human erythrocytes against Plasmodium falciparum replication ex vivo. Here, we have sequenced the human PKLR gene in 387 individuals from malaria-endemic and other regions in order to assess genetic variability in different geographical regions and ethnic groups. Rich genetic diversity was detected in PKLR, including 59 single-nucleotide polymorphisms and several loss-of-function variants (frequency 1.5%). Haplotype distribution and allele frequency varied considerably with geography. Neutrality testing suggested positive selection of the genein the sub-Saharan African and Pakistan populations. It is possible that such positive selection involves the malarial parasite. © 2012 Macmillan Publishers Limited All rights reserved.