Emmanouil T. Dermitzakis1, Alexandre Reymond1, Robert Lyle1, Nathalie Scamuffa1, Catherine Ucla1, Samuel Deutsch1, Brian J. Stevenson2, 3, Volker Flegel2, 3, Philipp Bucher2,4, C. Victor Jongeneel2,3 and Stylianos E. Antonarakis1


1Division of Medical Genetics, 1 Rue Michel-Servet, University of Geneva Medical School and University Hospitals of Geneva, CH-1211 Geneva, Switzerland

2Swiss Institute of Bioinformatics (SIB), 155 Chemin des Boveresses, CH-1066 Epalinges, Switzerland
3Office of Information Technology, Ludwig Institute for Cancer Research, 155 Chemin des Boveresses, CH-1066 Epalinges, Switzerland
4Swiss Institute for Experimental Cancer Research (ISREC), 155 Chemin des Boveresses, CH-1066 Epalinges, Switzerland


The use of comparative genomics to infer genome function hinges on the understanding of how different components of the genome change in evolutionary time. Such comparative analysis aims at the identification of conserved functionally transcribed sequences such as protein-coding genes and non-coding RNA genes, and other functional sequences such as regulatory regions, and other genomic features.


In this study we have compared the entire human chromosome 21 (Hsa21) with the mouse syntenic regions and identified a large number of conserved blocks of unknown function. We subsequently performed extensive experimental and computational analysis of Hsa21 unknown conserved sequences in an effort to assign function. Our data support the presence of a large number of potentially functional non-genic sequences, most likely regulatory and structural.


The integration of the properties of the conserved components of Hsa21 to the rapidly accumulating functional data for this chromosome will considerably improve our understanding of the role of sequence conservation in mammalian genomes and help determine the molecular etiology of Down syndrome.

This study was published on December 5th , 2002, in the prestigious journal Nature (Vol: 420, pages 578-582, 2002).


Description in English and French of project and results.


PDF version of the paper here


Supplementary material: see http://www.nature.com/nature