A gene expression map of human chromosome 21 orthologues in the mouse

Gitton, Yorick; Dahmane, Nadia; Baik, Sonya; i Altaba, Ariel Ruiz; Neidhardt, Lorenz; Scholze, Manuela; Herrmann, Bernhard G.; Kahlem, Pascal; Benkhala, Alia; Schrinner, Sabine; Yildirimman, Reha; Herwig, Ralf; Lehrach, Hans; Yaspo, Marie-Laure

doi:10.1038/nature01270

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A gene expression map of human chromosome 21 orthologues in the mouse

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Neidhardt, Lorenz
Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Scholze, Manuela
Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Herrmann, Bernhard G.
Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society;

Kahlem, Pascal
Max Planck Society;

Benkhala, Alia
Max Planck Society;

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Schrinner, Sabine
Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Yildirimman, Reha
Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Herwig, Ralf
Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Lehrach, Hans
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Yaspo, Marie-Laure
Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Gitton, Y., Dahmane, N., Baik, S., i Altaba, A. R., Neidhardt, L., Scholze, M., et al. (2002). A gene expression map of human chromosome 21 orthologues in the mouse. Nature, 420(6917), 586-590. doi:10.1038/nature01270.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-8BAB-A

Abstract

The DNA sequence of human chromosome 21 (HSA21) has opened the route for a systematic molecular characterization of all of its genes. Trisomy 21 is associated with Down's syndrome, the most common genetic cause of mental retardation in humans. The phenotype includes various organ dysmorphies, stereotypic craniofacial anomalies and brain malformations. Molecular analysis of congenital aneuploidies poses a particular challenge because the aneuploid region contains many protein-coding genes whose function is unknown. One essential step towards understanding their function is to analyse mRNA expression patterns at key stages of organism development. Seminal works in flies, frogs and mice showed that genes whose expression is restricted spatially and/or temporally are often linked with specific ontogenic processes. Here we describe expression profiles of mouse orthologues to HSA21 genes by a combination of large-scale mRNA in situ hybridization at critical stages of embryonic and brain development and in silico (computed) mining of expressed sequence tags. This chromosome-scale expression annotation associates many of the genes tested with a potential biological role and suggests candidates for the pathogenesis of Down's syndrome.