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Anopheles gambiae is the principal vector of malaria, a disease that afflicts more than 500 million people and causes more than 1 million deaths each year. Tenfold shotgun sequence coverage was obtained from the PEST strain of A. gambiae and assembled into scaffolds that span 278 million base pairs. A total of 91% of the genome was organized in 303 scaffolds; the largest scaffold was 23.1 million base pairs. There was substantial genetic variation within this strain, and the apparent existence of two haplotypes of approximately equal frequency ("dual haplotypes") in a substantial fraction of the genome likely reflects the outbred nature of the PEST strain. The sequence produced a conservative inference of more than 400,000 single-nucleotide polymorphisms that showed a markedly bimodal density distribution. Analysis of the genome sequence revealed strong evidence for about 14,000 protein-encoding transcripts. Prominent expansions in specific families of proteins likely involved in cell adhesion and immunity were noted. An expressed sequence tag analysis of genes regulated by blood feeding provided insights into the physiological adaptations of a hematophagous insect.

Original publication

DOI

10.1126/science.1076181

Type

Journal article

Journal

Science

Publication Date

04/10/2002

Volume

298

Pages

129 - 149

Keywords

Animals, Anopheles, Biological Evolution, Blood, Chromosome Inversion, Chromosomes, Artificial, Bacterial, Computational Biology, DNA Transposable Elements, Digestion, Drosophila melanogaster, Enzymes, Expressed Sequence Tags, Feeding Behavior, Gene Expression Regulation, Genes, Insect, Genetic Variation, Genome, Haplotypes, Humans, Insect Proteins, Insect Vectors, Malaria, Falciparum, Molecular Sequence Data, Mosquito Control, Physical Chromosome Mapping, Plasmodium falciparum, Polymorphism, Single Nucleotide, Proteome, Sequence Analysis, DNA, Species Specificity, Transcription Factors