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© Research
Publication : Genes and immunity

Genetic diversity in human erythrocyte pyruvate kinase.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Genes and immunity - 01 Jan 2012

Berghout J, Higgins S, Loucoubar C, Sakuntabhai A, Kain KC, Gros P,

Link to Pubmed [PMID] – 21833022

Link to DOI [DOI] – 10.1038/gene.2011.54

Genes Immun. 2012 Jan; 13(1): 98-102

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.

https://pubmed.ncbi.nlm.nih.gov/21833022