title: Human chromosome 21 gene expression atlas in the mouse.
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 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.
authors.affiliation: Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.forename: Valeria
authors.initials: V
authors.lastname: Marigo
authors.forename: Murat B
authors.initials: MB
authors.lastname: Yaylaoglu
authors.forename: Antonio
authors.initials: A
authors.lastname: Leoni
authors.forename: Catherine
authors.initials: C
authors.lastname: Ucla
authors.forename: Nathalie
authors.initials: N
authors.lastname: Scamuffa
authors.forename: Cristina
authors.initials: C
authors.lastname: Caccioppoli
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Robert
authors.initials: R
authors.lastname: Lyle
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
authors.forename: Gregor
authors.initials: G
authors.lastname: Eichele
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
mesh_terms: D000818:Animals; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D004622:Embryo, Mammalian / Q000196:embryology / Q000378:metabolism; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental; D023281:Genomics; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice / Q000196:embryology* / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D012333:RNA, Messenger