Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles gambiae

Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):20675-80. doi: 10.1073/pnas.1321024110. Epub 2013 Dec 2.

Abstract

The malaria parasite-resistance island (PRI) of the African mosquito vector, Anopheles gambiae, was mapped to five genomic regions containing 80 genes, using coexpression patterns of genomic blocks. High-throughput sequencing identified 347 nonsynonymous single-nucleotide polymorphisms within these genes in mosquitoes from malaria-endemic areas in Kenya. Direct association studies between nonsynonymous single-nucleotide polymorphisms and Plasmodium falciparum infection identified three naturally occurring genetic variations in each of three genes (An. gambiae adenosine deaminase, fibrinogen-related protein 30, and fibrinogen-related protein 1) that were associated significantly with parasite infection. A role for these genes in the resistance phenotype was confirmed by RNA interference knockdown assays. Silencing fibrinogen-related protein 30 increased parasite infection significantly, whereas ablation of fibrinogen-related protein 1 transcripts resulted in mosquitoes nearly free of parasites. The discovered genes and single-nucleotide polymorphisms are anticipated to be useful in the development of tools for malaria control in endemic areas in Africa.

Keywords: chromosomal domains; gene expression; genomics; synteny; traits.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Anopheles* / genetics
  • Anopheles* / immunology
  • Anopheles* / parasitology
  • Gene Silencing
  • Genome / immunology*
  • Immunity, Innate / genetics*
  • Insect Proteins* / genetics
  • Insect Proteins* / immunology
  • Kenya
  • Plasmodium falciparum / immunology*
  • Polymorphism, Single Nucleotide*

Substances

  • Insect Proteins