Alexandre Reymond1,5, Valeria Marigo2,5, Murat B. Yaylaoglu3,5, Antonio Leoni2,
Catherine Ucla1, Nathalie Scamuffa1, Cristina Caccioppoli2, Emmanouil T. Dermitzakis1,
Robert Lyle1, Sandro Banfi2, Gregor Eichele3, Stylianos E. Antonarakis1 and
Andrea Ballabio2,4
Genome-wide expression analyses have a crucial role in functional genomics.
High resolution methods, such as RNA in situ hybridization (ISH) provide an
accurate description of the spatiotemporal distribution of transcripts as well
as a 3-dimensional in vivo gene expression panorama. We set out
to systematically analyze the expression patterns of genes from an entire chromosome
and chromosome 21 was chosen because of the medical relevance of trisomy 21
(Down syndrome). We observed patterned expression in several tissues including
those affected in trisomy 21 phenotypes. 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 syndrome.
The study, which was supported financially in Switzerland by the Swiss National
Science Foundation, the NCCR Frontiers in Genetics and the J. Lejeune and Childcare
foundations, is published in the December 5th, 2002 issue of the prestigious
international journal Nature (Vol: 420, pages 582-586, 2002). To download
the pdf version of the paper.
A French and an English
description of this work is provided. The entire set of data can be accessed
through http://www.tigem.it/ch21exp.
The site also recapitulates the importance of this work in the study of trisomy
21 and answers to frequently asked questions concerning Down syndrome (in English,
French, Italian, German, Spanish, Dutch and Greek).