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What is a gene, post-ENCODE?: History and updated definition
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2007 (English)In: Genome Research, ISSN 1088-9051, E-ISSN 1549-5469, Vol. 17, no 6, 669-681 p.Article in journal (Refereed) Published
Abstract [en]

While sequencing of the human genome surprised us with how many protein-coding genes there are, it did not fundamentally change our perspective on what a gene is. In contrast, the complex patterns of dispersed regulation and pervasive transcription uncovered by the ENCODE project, together with non-genic conservation and the abundance of noncoding RNA genes, have challenged the notion of the gene. To illustrate this, we review the evolution of operational definitions of a gene over the past century--from the abstract elements of heredity of Mendel and Morgan to the present-day ORFs enumerated in the sequence databanks. We then summarize the current ENCODE findings and provide a computational metaphor for the complexity. Finally, we propose a tentative update to the definition of a gene: A gene is a union of genomic sequences encoding a coherent set of potentially overlapping functional products. Our definition side-steps the complexities of regulation and transcription by removing the former altogether from the definition and arguing that final, functional gene products (rather than intermediate transcripts) should be used to group together entities associated with a single gene. It also manifests how integral the concept of biological function is in defining genes.

Place, publisher, year, edition, pages
2007. Vol. 17, no 6, 669-681 p.
Keyword [en]
HIDDEN MARKOV MODEL, CHIP-CHIP EXPERIMENTS, GENOME TILING ARRAYS, NONCODING RNAS, MESSENGER-RNA, TRANSCRIPTIONAL ACTIVITY, PROCESSED PSEUDOGENES, SYSTEMATIC DEFINITION, UNRELATED PROTEINS, PNEUMOCOCCAL TYPES
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Bioinformatics and Systems Biology
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URN: urn:nbn:se:kth:diva-50433DOI: 10.1101/gr.6339607ISI: 000247226900002PubMedID: 17567988OAI: oai:DiVA.org:kth-50433DiVA: diva2:461887
Note
QC 20111206Available from: 2011-12-05 Created: 2011-12-05 Last updated: 2017-12-08Bibliographically approved

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Emanuelsson, Olof

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  • apa
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