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ENCODE : ウィキペディア英語版
ENCODE

The Encyclopedia of DNA Elements (ENCODE) is a public research project launched by the US National Human Genome Research Institute (NHGRI) in September 2003.〔 〕
Intended as a follow-up to the Human Genome Project ((Genomic Research )), the ENCODE project aims to identify all functional elements in the human genome.
The project involves a worldwide consortium of research groups, and data generated from this project can be accessed through public databases.
== Motivation and significance ==

Humans are estimated to have approximately 20,000 protein-coding genes (collectively known as the exome), which account for only about 1.5% of DNA in the human genome. The primary goal of the ENCODE project is to determine the role of the remaining component of the genome, much of which was traditionally regarded as "junk" (i.e. DNA that is not transcribed).
Approximately 90% of single-nucleotide polymorphisms in the human genome (that have been linked to various diseases by genome-wide association studies) are found outside of protein-coding regions.
The activity and expression of protein-coding genes can be modulated by the regulome - a variety of DNA elements, such as promoter, transcriptional regulatory sequences and regions of chromatin structure and histone modification. It is thought that changes in the regulation of gene activity can disrupt protein production and cell processes and result in disease ((ENCODE Project Background )). Determining the location of these regulatory elements and how they influence gene transcription could reveal links between variations in the expression of certain genes and the development of disease.
ENCODE is intended as a comprehensive resource to allow the scientific community to better understand how the genome can affect human health, and to "stimulate the development of new therapies to prevent and treat these diseases".
To date, the project has facilitated the identification of novel DNA regulatory elements, providing new insights into the organization and regulation of our genes and genome, and how differences in DNA sequence could influence disease.〔 One main accomplishment described by the Consortium has been that 80% of the human genome is now "associated with at least one biochemical function". Much of this functional non-coding DNA is involved in the regulation of the expression of coding genes.〔 Furthermore the expression of each coding gene is controlled by multiple regulatory sites located both near and distant from the gene. These results demonstrate that gene regulation is far more complex than was previously believed.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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