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- Title
Genetic diversity in human erythrocyte pyruvate kinase.
- Authors
Berghout, J; Higgins, S; Loucoubar, C; Sakuntabhai, A; Kain, K C; Gros, P
- 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.
- Subjects
ERYTHROCYTES; GENETICS; PYRUVATE kinase; LABORATORY mice; PLASMODIUM falciparum; MALARIA; NUCLEOTIDES
- Publication
Genes & Immunity, 2012, Vol 13, Issue 1, p98
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/gene.2011.54