Alternatively spliced transcripts and novel pseudogenes of the Plasmodium falciparum resistance-associated locus pfcrt detected in East African malaria patients.

Objectives: Polymorphisms in the lysosomal transporter encoded by the pfcrt gene directly impact on Plasmodium falciparum susceptibility to aminoquinolines. The Lys76Thr mutation is the critical change conferring chloroquine resistance in vitro and in vivo, but always occurs with additional non-syno...

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Publicado en:Journal of Antimicrobial Chemotherapy (JAC) Vol. 70; no. 1; pp. 116 - 124
Autores principales: Gadalla, Nahla B, Malmberg, Maja, Adam, Ishag, Oguike, Mary C, Beshir, Khalid, Elzaki, Salah-Eldin, Mukhtar, Izdihar, Gadalla, Amal A, Warhurst, David C, Ngasala, Billy, Mårtensson, Andreas, El-Sayed, Badria B, Gil, J Pedro, Sutherland, Colin J
Formato: research Journal Article
Publicado: Oxford University Press / USA Jan2015
Acceso en línea:Ver este registro en EBSCOhost
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      pub: Oxford University Press / USA
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        10.1093/jac/dku358
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        atl: Alternatively spliced transcripts and novel pseudogenes of the Plasmodium falciparum resistance-associated locus pfcrt detected in East African malaria patients.
      aug:
        au:
          Gadalla, Nahla B
          Malmberg, Maja
          Adam, Ishag
          Oguike, Mary C
          Beshir, Khalid
          Elzaki, Salah-Eldin
          Mukhtar, Izdihar
          Gadalla, Amal A
          Warhurst, David C
          Ngasala, Billy
          Mårtensson, Andreas
          El-Sayed, Badria B
          Gil, J Pedro
          Sutherland, Colin J
      sug:
        subj:
          RNA
          Malaria
          Membrane Transport Proteins
          Protozoa
          Proteins
          Genes
          RNA Metabolism
          Adult
          Amino Acids
          Child
          Child, Preschool
          DNA
          Female
          Infant
          Male
          Models, Biological
          Models, Theoretical
          Documentation
          Polymerase Chain Reaction
          Polymorphism, Genetic
          Molecular Structure
          Sequence Analysis
          Sudan
          Tanzania
          Funding Source
          Human
          Adult: 19-44 years
          Child: 6-12 years
          Child, Preschool: 2-5 years
          Infant: 1-23 months
          Female
          Male
      ab: Objectives: Polymorphisms in the lysosomal transporter encoded by the pfcrt gene directly impact on Plasmodium falciparum susceptibility to aminoquinolines. The Lys76Thr mutation is the critical change conferring chloroquine resistance in vitro and in vivo, but always occurs with additional non-synonymous changes in the pfcrt coding sequence. We sought to better describe pfcrt polymorphisms distal to codon 76.Methods: Small-volume samples (≤ 500 μL) of parasite-infected blood collected directly from malaria patients presenting for treatment in Sudan and Tanzania were immediately preserved for RNA extraction. The pfcrt locus was amplified from cDNA preparations by nested PCR and sequenced directly to derive full-length mRNA sequences.Results: In one of two sites in Sudan, two patients were found with an unorthodox spliced form of pfcrt mRNA in which two exons were skipped, but it was not possible to test for the presence of the putative protein products of these aberrant transcripts. Genomic DNA sequencing from dried blood spots collected in parallel confirmed the presence of spliced pfcrt pseudogenes in a minority of parasite isolates. Full-length cDNA from conventionally spliced mRNA molecules in all study sites demonstrated the existence of a variety of pfcrt haplotypes in East Africa, and thus provides evidence of intragenic recombination.Conclusions: The presence of pseudogenes, although unlikely to have any direct public health impact, may confound results obtained from simple genotyping methods that consider only codon 76 and the adjacent residues of pfcrt.
      pubtype: Academic Journal
      doctype:
        research
        Journal Article
      ougenre: Article
    language: English
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