title: Numerous potentially functional but non-genic conserved sequences on human chromosome 21.
abstract: The use of comparative genomics to infer genome function relies on the understanding of how different components of the genome change over evolutionary time. The aim of such comparative analysis is to identify conserved, functionally transcribed sequences such as protein-coding genes and non-coding RNA genes, and other functional sequences such as regulatory regions, as well as other genomic features. Here, we have compared the entire human chromosome 21 with syntenic regions of the mouse genome, and have identified a large number of conserved blocks of unknown function. Although previous studies have made similar observations, it is unknown whether these conserved sequences are genes or not. Here we present an extensive experimental and computational analysis of human chromosome 21 in an effort to assign function to sequences conserved between human chromosome 21 (ref. 8) and the syntenic mouse regions. Our data support the presence of a large number of potentially functional non-genic sequences, probably regulatory and structural. The integration of the properties of the conserved components of human chromosome 21 to the rapidly accumulating functional data for this chromosome will improve considerably our understanding of the role of sequence conservation in mammalian genomes.
authors.affiliation: Division of Medical Genetics, 1 Rue Michel-Servet, University of Geneva Medical School and University Hospitals of Geneva, CH-1211 Geneva, Switzerland.
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.forename: Robert
authors.initials: R
authors.lastname: Lyle
authors.forename: Nathalie
authors.initials: N
authors.lastname: Scamuffa
authors.forename: Catherine
authors.initials: C
authors.lastname: Ucla
authors.forename: Samuel
authors.initials: S
authors.lastname: Deutsch
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Stevenson
authors.forename: Volker
authors.initials: V
authors.lastname: Flegel
authors.forename: Philipp
authors.initials: P
authors.lastname: Bucher
authors.forename: C Victor
authors.initials: CV
authors.lastname: Jongeneel
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D000818:Animals; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D019295:Computational Biology; D017124:Conserved Sequence / Q000235:genetics*; D005796:Genes / Q000235:genetics; D023281:Genomics; D006801:Humans; D051379:Mice / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011544:Pseudogenes / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics; D011817:Rabbits; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D026801:Synteny; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D022661:RNA, Untranslated