Human chromosome 21 gene expression atlas in the mouse

• Published in: Nature (London) Vol. 420; no. 6915; pp. 582 - 586
• Main Authors: Antonarakis, Stylianos E, Ballabio, Andrea, Reymond, Alexandre, Marigo, Valeria, Yaylaoglu, Murat B, Leoni, Antonio, Ucla, Catherine, Scamuffa, Nathalie, Caccioppoli, Cristina, Dermitzakis, Emmanouil T, Lyle, Robert, Banfi, Sandro, Eichele, Gregor
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 05-12-2002
• Subjects: Animals; Central nervous system; Chromosomes, Human, Pair 21 - genetics; Deoxyribonucleic acid; DNA; Down Syndrome - genetics; Down Syndrome - pathology; Down Syndrome - physiopathology; Downs syndrome; Embryo, Mammalian - embryology; Embryo, Mammalian - metabolism; Gastrointestinal tract; Gene Expression Profiling; Gene Expression Regulation, Developmental; Genes; Genomics; Humans; Hybridization; In Situ Hybridization; Mice - embryology; Mice - genetics; Reverse Transcriptase Polymerase Chain Reaction; Ribonucleic acid; RNA; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Homology, Nucleic Acid; Statistical analysis; Tissues; Transcription, Genetic - genetics
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/nature01178

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 overview. 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). 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.