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Genetic diversity in human erythrocyte pyruvate kinase

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.
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Submitted on : Friday, March 15, 2019 - 1:56:46 PM
Last modification on : Tuesday, May 3, 2022 - 3:14:04 PM

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J. Berghout, S. Higgins, C. Loucoubar, Anavaj Sakuntabhai, Kevin C. Kain, et al.. Genetic diversity in human erythrocyte pyruvate kinase. Genes and Immunity, Nature Publishing Group: Open Access Hybrid Model Option B, 2012, 13 (1), pp.98-102. ⟨10.1038/gene.2011.54⟩. ⟨pasteur-02069000⟩

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