Human chromosome 21 gene expression atlas in the mouse

Alexandre Reymond, Valeria Marigo, Murat B. Yaylaoglu, Antonio Leoni, Catherine Ucla, Nathalie Scamuffa, Cristina Caccioppoli, Emmanouil T. Dermitzakis, Robert Lyle, Sandro Banfi, Gregor Eichele, Stylianos E. Antonarakis () and Andrea Ballabio ()
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Alexandre Reymond: University of Geneva Medical School and University Hospital of Geneva
Valeria Marigo: Second University of Naples
Murat B. Yaylaoglu: Telethon Institute of Genetics and Medicine
Catherine Ucla: University of Geneva Medical School and University Hospital of Geneva
Nathalie Scamuffa: University of Geneva Medical School and University Hospital of Geneva
Emmanouil T. Dermitzakis: University of Geneva Medical School and University Hospital of Geneva
Robert Lyle: University of Geneva Medical School and University Hospital of Geneva
Gregor Eichele: Telethon Institute of Genetics and Medicine
Stylianos E. Antonarakis: University of Geneva Medical School and University Hospital of Geneva
Andrea Ballabio: Max Planck Institute of Experimental Endocrinology

Nature, 2002, vol. 420, issue 6915, 582-586

Abstract: Abstract Genome-wide expression analyses have a crucial role in functional genomics. High resolution methods, such as RNA in situ hybridization provide an accurate description of the spatiotemporal distribution of transcripts as well as a three-dimensional ‘in vivo’ gene expression overview1,2,3,4,5. We set out to analyse systematically the expression patterns of genes from an entire chromosome. We chose human chromosome 21 because of the medical relevance of trisomy 21 (Down's syndrome)6. Here we show the expression analysis of all identifiable murine orthologues of human chromosome 21 genes (161 out of 178 confirmed human genes) by RNA in situ hybridization on whole mounts and tissue sections, and by polymerase chain reaction with reverse transcription on adult tissues. We observed patterned expression in several tissues including those affected in trisomy 21 phenotypes (that is, central nervous system, heart, gastrointestinal tract, and limbs). Furthermore, statistical analysis suggests the presence of some regions of the chromosome with genes showing either lack of expression or, to a lesser extent, co-expression in specific tissues. This high resolution expression ‘atlas’ of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome.

Date: 2002
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DOI: 10.1038/nature01178

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