the mouse genome
Nature 420, 582-586 (5 December 2002) | doi:10.1038/nature01178; Received 11 May 2002; Accepted 19 September 2002
Human chromosome 21 gene expression atlas in the mouse
Alexandre Reymond1,2, Valeria Marigo2,3, Murat B. Yaylaoglu2,4, Antonio Leoni3, Catherine Ucla1, Nathalie Scamuffa1, Cristina Caccioppoli3, Emmanouil T. Dermitzakis1, Robert Lyle1, Sandro Banfi3, Gregor Eichele4, Stylianos E. Antonarakis1 and Andrea Ballabio3,5
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.
- Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
- Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Naples, Italy
- Max Planck Institute of Experimental Endocrinology, Feodor-Lynen-Str. 7, D-30625 Hannover, Germany
- Medical Genetics, Second University of Naples, Naples, Italy
- These authors contributed equally to this work
Correspondence to: Stylianos E. Antonarakis1Andrea Ballabio3,5
Correspondence and requests for materials should be addressed to A.B. (e-mail: Email: ballabio@tigem.it), S.E.A. (e-mail: Email: stylianos.antonarakis@medecine.unige.ch) or G.E. (e-mail: Email: gregor.eichele@mpihan.mpg.de).
Author's contributions: The three laboratories of A.B., S.E.A. and G.E. contributed equally to this work.