Journal article

Ankyrin-1 gene exhibits allelic heterogeneity in conferring protection against Malaria

HM Huang, DC Bauer, PM Lelliott, MWA Dixon, L Tilley, BJ McMorran, SJ Foote, G Burgio

G3 Genes Genomes Genetics | OXFORD UNIV PRESS INC | Published : 2017

Abstract

Allelic heterogeneity is a common phenomenon where a gene exhibits a different phenotype depending on the nature of its genetic mutations. In the context of genes affecting malaria susceptibility, it allowed us to explore and understand the intricate host-parasite interactions during malaria infections. In this study, we described a gene encoding erythrocytic ankyrin-1 (Ank-1) which exhibits allelic-dependent heterogeneous phenotypes during malaria infections. We conducted an ENU mutagenesis screen on mice and identified two Ank-1 mutations, one resulting in an amino acid substitution (MRI95845), and the other a truncated Ank-1 protein (MRI96570). Both mutations caused hereditary spherocytos..

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