Published online 6 May 2004 [DOI: 10.1126/science.1098119]
Science 10.1126/science.1098119
http://www.sciencemag.org/cgi/content/abstract/1098119v1

"Ultraconserved Elements in the Human Genome."

Gill Bejerano 1*, Michael Pheasant 2, Igor Makunin 2, Stuart Stephen 2, W. James Kent 1, John S. Mattick 2, David Haussler 3 *

1 Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA.
2 ARC Special Research Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia.
3 Howard Hughes Medical Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA.

 * To whom correspondence should be addressed.
 Gill Bejerano , E-mail:    jill@soe.ucsc.edu
 David Haussler , E-mail:    haussler@soe.ucsc.edu



Abstract:

There are 481 segments longer than 200 bp that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat and mouse genomes. Nearly all of these segments are also conserved in the chicken and dog genomes, with an average of 95% and 99% identity, respectively. Many are also significantly conserved in fish. These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in regulation of transcription and development. Along with more than 5,000 sequences of over 100bp that are absolutely conserved among the three sequenced mammals, these represent a class of genetic elements whose functions and evolutionary origins are yet to be determined, but which are more highly conserved between these species than proteins, and appear to be essential for the ontogeny of mammals and other vertebrates.



Additional References:

1. Dermitzakis ET, Reymond A, Scamuffa N, Ucla C, Kirkness E, Rossier C, and Antonarakis SE, "Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)".

2. Keightley PD, and Gaffney DJ, "Functional constraints and frequency of deleterious mutations in noncoding DNA of rodents".

3. Stuart JM, Segal E, Koller D, and Kim SK, "A Gene-Coexpression Network for Global Discovery of Conserved Genetic Modules".

4. Brosius J, "How Significant is 98.5% 'Junk' in Mammalian Genome?"
 


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"Ultrastructural Probes of Active DNA Sites, and the RNA Activators of DNA".



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