title: Ultraconserved elements in the human genome.
abstract: There are 481 segments longer than 200 base pairs (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 the regulation of transcription and development. Along with more than 5000 sequences of over 100 bp 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 are proteins and appear to be essential for the ontogeny of mammals and other vertebrates.
authors.affiliation: Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA. jill@soe.ucsc.edu
authors.forename: Gill
authors.initials: G
authors.lastname: Bejerano
authors.forename: Michael
authors.initials: M
authors.lastname: Pheasant
authors.forename: Igor
authors.initials: I
authors.lastname: Makunin
authors.forename: Stuart
authors.initials: S
authors.lastname: Stephen
authors.forename: W James
authors.initials: WJ
authors.lastname: Kent
authors.forename: John S
authors.initials: JS
authors.lastname: Mattick
authors.forename: David
authors.initials: D
authors.lastname: Haussler
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002645:Chickens / Q000235:genetics; D019295:Computational Biology; D017124:Conserved Sequence; D021901:DNA, Intergenic; D004285:Dogs / Q000235:genetics; D019143:Evolution, Molecular; D005091:Exons; D005786:Gene Expression Regulation; D005796:Genes; D016678:Genome; D015894:Genome, Human; D006801:Humans; D007438:Introns; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D012313:RNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D051381:Rats / Q000235:genetics; D023741:Takifugu / Q000235:genetics
chemical_list: D021901:DNA, Intergenic; D012313:RNA