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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.


Papers
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Journal ArticleDOI
Y. C. Li1, Abraham B. Korol1, Tzion Fahima1, Avigdor Beiles1, Eviatar Nevo1 
TL;DR: A review of the available data related to SSR distribution in coding and non-coding regions of genomes and SSR functional importance is presented in this article, where the role of two putative mutational mechanisms, replication slippage and recombination, and their interaction in SSR variation is discussed.
Abstract: Microsatellites, or tandem simple sequence repeats (SSR), are abundant across genomes and show high levels of polymorphism. SSR genetic and evolutionary mechanisms remain controversial. Here we attempt to summarize the available data related to SSR distribution in coding and noncoding regions of genomes and SSR functional importance. Numerous lines of evidence demonstrate that SSR genomic distribution is nonrandom. Random expansions or contractions appear to be selected against for at least part of SSR loci, presumably because of their effect on chromatin organization, regulation of gene activity, recombination, DNA replication, cell cycle, mismatch repair system, etc. This review also discusses the role of two putative mutational mechanisms, replication slippage and recombination, and their interaction in SSR variation.

1,079 citations

Journal ArticleDOI
TL;DR: Gene transfer between staphylococci and low-GC-content gram-positive bacteria appears to have shaped their virulence and resistance profiles, and overall differences in pathogenicity can be attributed to genome islands in S. aureus and S. epidermidis.
Abstract: Staphylococcus aureus is an opportunistic pathogen and the major causative agent of numerous hospital- and community-acquired infections. Staphylococcus epidermidis has emerged as a causative agent of infections often associated with implanted medical devices. We have sequenced the ∼2.8-Mb genome of S. aureus COL, an early methicillin-resistant isolate, and the ∼2.6-Mb genome of S. epidermidis RP62a, a methicillin-resistant biofilm isolate. Comparative analysis of these and other staphylococcal genomes was used to explore the evolution of virulence and resistance between these two species. The S. aureus and S. epidermidis genomes are syntenic throughout their lengths and share a core set of 1,681 open reading frames. Genome islands in nonsyntenic regions are the primary source of variations in pathogenicity and resistance. Gene transfer between staphylococci and low-GC-content gram-positive bacteria appears to have shaped their virulence and resistance profiles. Integrated plasmids in S. epidermidis carry genes encoding resistance to cadmium and species-specific LPXTG surface proteins. A novel genome island encodes multiple phenol-soluble modulins, a potential S. epidermidis virulence factor. S. epidermidis contains the cap operon, encoding the polyglutamate capsule, a major virulence factor in Bacillus anthracis. Additional phenotypic differences are likely the result of single nucleotide polymorphisms, which are most numerous in cell envelope proteins. Overall differences in pathogenicity can be attributed to genome islands in S. aureus which encode enterotoxins, exotoxins, leukocidins, and leukotoxins not found in S. epidermidis.

1,075 citations

Journal ArticleDOI
Ian Dunham1, Nobuyoshi Shimizu1, Bruce A. Roe1, S. Chissoe1  +220 moreInstitutions (15)
02 Dec 1999-Nature
TL;DR: The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Abstract: Knowledge of the complete genomic DNA sequence of an organism allows a systematic approach to defining its genetic components. The genomic sequence provides access to the complete structures of all genes, including those without known function, their control elements, and, by inference, the proteins they encode, as well as all other biologically important sequences. Furthermore, the sequence is a rich and permanent source of information for the design of further biological studies of the organism and for the study of evolution through cross-species sequence comparison. The power of this approach has been amply demonstrated by the determination of the sequences of a number of microbial and model organisms. The next step is to obtain the complete sequence of the entire human genome. Here we report the sequence of the euchromatic part of human chromosome 22. The sequence obtained consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.

1,075 citations

Journal ArticleDOI
24 Dec 2004-Science
TL;DR: This work constructed a series of high-density oligonucleotide tiling arrays representing sense and antisense strands of the entire nonrepetitive sequence of the human genome and found 10,595 transcribed sequences not detected by other methods.
Abstract: Elucidating the transcribed regions of the genome constitutes a fundamental aspect of human biology, yet this remains an outstanding problem. To comprehensively identify coding sequences, we constructed a series of high-density oligonucleotide tiling arrays representing sense and antisense strands of the entire nonrepetitive sequence of the human genome. Transcribed sequences were located across the genome via hybridization to complementary DNA samples, reverse-transcribed from polyadenylated RNA obtained from human liver tissue. In addition to identifying many known and predicted genes, we found 10,595 transcribed sequences not detected by other methods. A large fraction of these are located in intergenic regions distal from previously annotated genes and exhibit significant homology to other mammalian proteins.

1,073 citations

Journal ArticleDOI
Gregory D. Schuler1, Mark S. Boguski1, Elizabeth A. Stewart2, Lincoln Stein3, Gabor Gyapay, Kate Rice4, Robert E. White5, P. Rodriguez-Tomé6, Amita Aggarwal2, Eva Bajorek2, S. Bentolila, B. B. Birren3, Adam Butler4, Andrew B. Castle3, N. Chiannilkulchai, Angela M. Chu2, C M Clee4, Sid Cowles2, P. J. R. Day5, T. Dibling4, N. Drouot, Ian Dunham4, Simone Duprat, C. East4, C A Edwards4, Jun Fan2, Nicole Y. Fang7, Cécile Fizames, Christine Garrett4, L. Green4, David Hadley2, Midori A. Harris2, Paul Harrison4, Shannon T. Brady2, Andrew A. Hicks4, E. Holloway4, L. Hui3, S. Hussain2, C. Louis-Dit-Sully5, J. Ma3, A. MacGilvery4, Christopher Mader2, A. Maratukulam2, Tara C. Matise8, K. B. McKusick2, Jean Morissette9, Andrew J. Mungall4, Delphine Muselet, H. C. Nusbaum3, David C. Page3, Ammon B. Peck4, Shanti M. Perkins2, Mark Piercy2, Fawn Qin2, John Quackenbush2, S A Ranby4, Tim Reif2, Steve Rozen3, C. Sanders2, X. She2, James Silva3, Donna K. Slonim3, Carol Soderlund4, W.-L. Sun2, P. Tabar2, T. Thangarajah5, Nathalie Vega-Czarny, Douglas Vollrath2, S. Voyticky2, T. E. Wilmer4, Xiao-Yu Wu3, Mark Raymond Adams10, Charles Auffray11, Nicole A.R. Walter12, Rhonda Brandon10, Anindya Dehejia1, Peter N. Goodfellow13, R. Houlgatte11, James R. Hudson1, Susan E. Ide1, K. R. Iorio10, Wha‐Young Lee, N. Seki, Takahiro Nagase, K. Ishikawa, N. Nomura, Cheryl Phillips10, Mihael H. Polymeropoulos1, Mina Sandusky10, Karin Schmitt13, Richard Berry12, K. Swanson, R. Torres1, J. C. Venter10, James M. Sikela12, Jacques S. Beckmann, Jean Weissenbach, Richard M. Myers2, David R. Cox2, Michael R. James5, David Bentley4, Panos Deloukas4, Eric S. Lander3, Thomas J. Hudson3, Thomas J. Hudson14 
25 Oct 1996-Science
TL;DR: The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease.
Abstract: The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers on a set of two radiation hybrid panels and a yeast artificial chromosome library. More than 16,000 human genes have been mapped relative to a framework map that contains about 1000 polymorphic genetic markers. The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease. The integrated resource is available through a site on the World Wide Web at http://www.ncbi.nlm.nih.gov/SCIENCE96/.

1,072 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
20242
20237,313
202214,209
20214,955
20205,080
20194,839