RESUMEN
The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine and drug development, having made inestimable contributions to human health. We report here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a high-quality 'draft' covering over 90% of the genome. The BN rat sequence is the third complete mammalian genome to be deciphered, and three-way comparisons with the human and mouse genomes resolve details of mammalian evolution. This first comprehensive analysis includes genes and proteins and their relation to human disease, repeated sequences, comparative genome-wide studies of mammalian orthologous chromosomal regions and rearrangement breakpoints, reconstruction of ancestral karyotypes and the events leading to existing species, rates of variation, and lineage-specific and lineage-independent evolutionary events such as expansion of gene families, orthology relations and protein evolution.
Asunto(s)
Evolución Molecular , Genoma , Genómica , Ratas Endogámicas BN/genética , Animales , Composición de Base , Centrómero/genética , Cromosomas de los Mamíferos/genética , Islas de CpG/genética , Elementos Transponibles de ADN/genética , ADN Mitocondrial/genética , Duplicación de Gen , Humanos , Intrones/genética , Masculino , Ratones , Modelos Moleculares , Mutagénesis , Polimorfismo de Nucleótido Simple/genética , Sitios de Empalme de ARN/genética , ARN no Traducido/genética , Ratas , Secuencias Reguladoras de Ácidos Nucleicos/genética , Retroelementos/genética , Análisis de Secuencia de ADN , Telómero/genéticaRESUMEN
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.
