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
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.
Description in English
and French of project
and results.
Supplementary material: see http://www.nature.com/nature