Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
UMass Chan Affiliations
Program in Gene Function and ExpressionDepartment of Biochemistry and Molecular Pharmacology
Department of Pediatrics
Document Type
Journal ArticlePublication Date
2007-06-14Keywords
ChromatinChromatin Immunoprecipitation
Conserved Sequence
DNA Replication
Evolution, Molecular
Exons
Genetic Variation
Genome, Human
*Genomics
Heterozygote
Histones
Humans
Pilot Projects
Protein Binding
RNA, Messenger
RNA, Untranslated
Regulatory Sequences, Nucleic Acid
Transcription Factors
Transcription Initiation Site
Transcription, Genetic
Hematology
Oncology
Pediatrics
Metadata
Show full item recordAbstract
We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.Source
Nature. 2007 Jun 14;447(7146):799-816. doi: 10.1038/nature05874. Link to article on publisher's siteDOI
10.1038/nature05874Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43419PubMed ID
17571346Notes
UMass authors are just a few members of the 477-member ENCODE Project Consortium.
Related Resources
Link to article in PubMedae974a485f413a2113503eed53cd6c53
10.1038/nature05874