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Genome
About: Genome is a research topic. Over the lifetime, 74231 publications have been published within this topic receiving 3819713 citations.
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TL;DR: In this paper, a dual experimental strategy was used to verify and correct the initial genome sequence annotation of the reference plant Arabidopsis and identified 5817 novel transcription units including a substantial amount of antisense gene transcription, and 40 genes within the genetically defined centromeres.
Abstract: Functional analysis of a genome requires accurate gene structure information and a complete gene inventory. A dual experimental strategy was used to verify and correct the initial genome sequence annotation of the reference plant Arabidopsis. Sequencing full-length cDNAs and hybridizations using RNA populations from various tissues to a set of high-density oligonucleotide arrays spanning the entire genome allowed the accurate annotation of thousands of gene structures. We identified 5817 novel transcription units, including a substantial amount of antisense gene transcription, and 40 genes within the genetically defined centromeres. This approach resulted in completion of approximately 30% of the Arabidopsis ORFeome as a resource for global functional experimentation of the plant proteome.
939 citations
TL;DR: By combining next-generation sequencing and copy number analysis, it is shown that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case and novel dysregulated pathways underlying its pathogenesis are identified.
Abstract: Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular pathways, remains unknown. By combining next-generation sequencing and copy number analysis, we show that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case. This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells. These results provide initial data on the complexity of the DLBCL coding genome and identify novel dysregulated pathways underlying its pathogenesis.
939 citations
TL;DR: A new web-based tool, OrganellarGenomeDRAW (OGDRAW), which produces high-resolution custom graphical maps of DNA sequences as stored in standard GenBank format entries, specially optimized for the display of chloroplast and mitochondrial genomes.
Abstract: Mitochondria and plastids are DNA-containing cell organelles whose genomes occur at high copy numbers per cell. Organellar genomes vary greatly in size ranging from approximately 15 kb for some animal mitochondrial genomes to more than 2 Mb for some plant mitochondrial genomes. The vast majority of organellar genomes map as circular molecules that are difficult to illustrate by available commercial or free software tools. Thus, published genome maps are extremely heterogeneous in design, often tediously drawn semi-manually and lack any consensus in display. Here, we present a new web-based tool, OrganellarGenomeDRAW (OGDRAW), which produces high-resolution custom graphical maps of DNA sequences as stored in standard GenBank format entries. GenBank data can be provided as either file uploads or accession numbers. The program is specially optimized for the display of chloroplast and mitochondrial genomes but can also be used to depict other circular DNA sequences. The design of the program core as a Perl module with an object-oriented interface allows easy integration into custom scripts.
938 citations
TL;DR: Proteins are grouped by correlated evolution, correlated messenger RNA expression patterns and patterns of domain fusion to determine functional relationships among the 6,217 proteins of the yeast Saccharomyces cerevisiae to discover pairwise links between functionally related yeast proteins.
Abstract: The availability of over 20 fully sequenced genomes has driven the development of new methods to find protein function and interactions. Here we group proteins by correlated evolution, correlated messenger RNA expression patterns and patterns of domain fusion to determine functional relationships among the 6,217 proteins of the yeast Saccharomyces cerevisiae. Using these methods, we discover over 93,000 pairwise links between functionally related yeast proteins. Links between characterized and uncharacterized proteins allow a general function to be assigned to more than half of the 2,557 previously uncharacterized yeast proteins. Examples of functional links are given for a protein family of previously unknown function, a protein whose human homologues are implicated in colon cancer and the yeast prion Sup35.
938 citations
TL;DR: It is suggested that for many prokaryotes, the boundaries between species are fuzzy, and therefore the principles of population genetics must be broadened so that they can be applied to higher taxonomic categories.
Abstract: To what extent is the tree of life the best representation of the evolutionary history of microorganisms? Recent work has shown that, among sets of prokaryotic genomes in which most homologous genes show extremely low sequence divergence, gene content can vary enormously, implying that those genes that are variably present or absent are frequently horizontally transferred. Traditionally, successful horizontal gene transfer was assumed to provide a selective advantage to either the host or the gene itself, but could horizontally transferred genes be neutral or nearly neutral? We suggest that for many prokaryotes, the boundaries between species are fuzzy, and therefore the principles of population genetics must be broadened so that they can be applied to higher taxonomic categories.
938 citations