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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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Journal ArticleDOI
TL;DR: How global demethylation of repeat sequences including transposable elements and the site-specific hypomethylation of certain genes might contribute to the deleterious effects that ultimately result in the initiation and progression of cancer and other diseases is considered.

770 citations

Journal ArticleDOI
TL;DR: The complete nucleotide sequence of the adeno-associated virus 2 genome was determined and genome segments were assigned that code for three major viral capsid proteins and, possibly, some as-yet-unidentified, nonstructural viral proteins.
Abstract: The complete nucleotide sequence of the adeno-associated virus 2 genome was determined The single-stranded genome is 4,675 nucleotides in length and contains inverted terminal repeats of 145 nucleotides, the first 125 nucleotides of which form a palindromic sequence Within the inverted terminal repetitions, there are two distinct sequences representing an inversion of 43 nucleotides that can exist on either terminus The 5' and 3' termini of three major mRNA transcripts, which are present in both spliced and unspliced forms, were also mapped on the viral genome Potential initiation and termination codons for efficient protein synthesis were identified, and genome segments were assigned that code for three major viral capsid proteins and, possibly, some as-yet-unidentified, nonstructural viral proteins

769 citations

Journal Article
TL;DR: This issue, modENCODE team members outline their plan of campaign and data from the project are to be made available on http://www.modencode.org and elsewhere as the work progresses.
Abstract: Despite the successes of genomics, little is known about how genetic information produces complex organisms. A look at the crucial functional elements of fly and worm genomes could change that.

767 citations

Journal ArticleDOI
TL;DR: Transposable elements were first discovered in plants because they can have tremendous effects on genome structure and gene function and may be responsible for the rate at which incompatibility is generated in separated populations.
Abstract: Transposable elements were first discovered in plants because they can have tremendous effects on genome structure and gene function. Although only a few or no elements may be active within a genome at any time in any individual, the genomic alterations they cause can have major outcomes for a species. All major element types appear to be present in all plant species, but their quantitative and qualitative contributions are enormously variable even between closely related lineages. In some large-genome plants, mobile DNAs make up the majority of the nuclear genome. They can rearrange genomes and alter individual gene structure and regulation through any of the activities they promote: transposition, insertion, excision, chromosome breakage, and ectopic recombination. Many genes may have been assembled or amplified through the action of transposable elements, and it is likely that most plant genes contain legacies of multiple transposable element insertions into promoters. Because chromosomal rearrangements can lead to speciating infertility in heterozygous progeny, transposable elements may be responsible for the rate at which such incompatibility is generated in separated populations. For these reasons, understanding plant gene and genome evolution is only possible if we comprehend the contributions of transposable elements.

766 citations

Journal ArticleDOI
TL;DR: Molecular biologists ought to respect the original definition of synteny and its etymological derivation, especially as this term is still needed to refer to genes located on the same chromosome.
Abstract: nature genetics • volume 23 • december 1999 387 The term ‘synteny’ (or syntenic) refers to gene loci on the same chromosome regardless of whether or not they are genetically linked by classic linkage analysis1. This term was introduced in 1971 by John H. Renwick, of the London School of Hygiene and Tropical Medicine, at the 4th Internal Congress of Human Genetics in Paris with one of us (E.P.) in attendance. The need for such a term was suggested to J.H. Renwick by E.A. Murphy, of Johns Hopkins University2. It arose as a consequence of the new methods in gene mapping using somatic cell hybrid cells. Human genes located on the same chromosome with a genetic distance that could not be determined by the frequency of recombination lacked a term of reference. ‘Synteny’ means ‘same thread’ (or ribbon), a state of being together in location, as synchrony would be together in time. Although several textbooks3–10 and other reference works11–15 give a correct definition, the term synteny nowadays is often used to refer to gene loci in different organisms located on a chromosomal region of common evolutionary ancestry. This new usage of the term synteny does not correspond to its original definition and correct language derivation. A survey of 11 articles in Nature Genetics since 1992 using the term syntenic or synteny in either the title or the abstract revealed usage incorrect in 8 and ambiguous in 3. We believe molecular biologists ought to respect the original definition of synteny and its etymological derivation, especially as this term is still needed to refer to genes located on the same chromosome. We recognize the need to refer to gene loci of common ancestry. Correct terms exist: ‘paralogous’ for genes that arose from a common ancestor gene within one species and ‘orthologous’ for the same gene in different species. Eberhard Passarge1, Bernhard Horsthemke1 & Rosann A. Farber2 1Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. 2Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. Correspondence should be addressed to E.P. (e-mail: eberhard.passarge@uni-essen.de).

765 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