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

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.

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 Creators:
Gitton, Yorick, Author
Dahmane, Nadia, Author
Baik, Sonya, Author
i Altaba, Ariel Ruiz, Author
Neidhardt, Lorenz1, Author
Scholze, Manuela1, Author              
Herrmann, Bernhard G.1, Author              
Kahlem, Pascal2, Author
Benkhala, Alia2, Author
Schrinner, Sabine3, Author              
Yildirimman, Reha4, Author              
Herwig, Ralf4, Author              
Lehrach, Hans5, Author              
Yaspo, Marie-Laure3, Author              
Affiliations:
1Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
2Max Planck Society, ou_persistent13              
3Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479652              
4Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479648              
5Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 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.

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Language(s): eng - English
 Dates: 2002-09-12
 Publication Status: Published in print
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Title: Nature
Source Genre: Journal
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Pages: - Volume / Issue: 420 (6917) Sequence Number: - Start / End Page: 586 - 590 Identifier: -