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Journal Articles Genes and Immunity Year : 2012

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.

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pasteur-02069000 , version 1 (15-03-2019)

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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, 2012, 13 (1), pp.98-102. ⟨10.1038/gene.2011.54⟩. ⟨pasteur-02069000⟩

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