Numerous potentially functional but non-genic conserved sequences on human chromosome 21

Emmanouil T. Dermitzakis, Alexandre Reymond, Robert Lyle, Nathalie Scamuffa, Catherine Ucla, Samuel Deutsch, Brian J. Stevenson, Volker Flegel, Philipp Bucher, C. Victor Jongeneel and Stylianos E. Antonarakis ()
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Emmanouil T. Dermitzakis: University of Geneva Medical School and University Hospitals of Geneva
Alexandre Reymond: University of Geneva Medical School and University Hospitals of Geneva
Robert Lyle: University of Geneva Medical School and University Hospitals of Geneva
Nathalie Scamuffa: University of Geneva Medical School and University Hospitals of Geneva
Catherine Ucla: University of Geneva Medical School and University Hospitals of Geneva
Samuel Deutsch: University of Geneva Medical School and University Hospitals of Geneva
Brian J. Stevenson: Swiss Institute of Bioinformatics, Ludwig Institute for Cancer Research
Volker Flegel: Swiss Institute of Bioinformatics, Ludwig Institute for Cancer Research
Philipp Bucher: Swiss Institute of Bioinformatics, Ludwig Institute for Cancer Research
C. Victor Jongeneel: Swiss Institute of Bioinformatics, Ludwig Institute for Cancer Research
Stylianos E. Antonarakis: University of Geneva Medical School and University Hospitals of Geneva

Nature, 2002, vol. 420, issue 6915, 578-582

Abstract: Abstract The use of comparative genomics to infer genome function relies on the understanding of how different components of the genome change over evolutionary time1,2,3. 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 regions4,5, 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 observations6,7, 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 chromosome9,10 will improve considerably our understanding of the role of sequence conservation in mammalian genomes.

Date: 2002
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DOI: 10.1038/nature01251

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