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  Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down Syndrome

Kahlem, P., Sultan, M., Herwig, R., Steinfath, M., Balzereit, D., Eppens, B., et al. (2004). Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down Syndrome. Genome Research, 14(7), 1258-1267. doi:10.1101/gr.1951304.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-881E-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-881F-D
Genre: Journal Article
Alternative Title : Genome Res

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 Creators:
Kahlem, Pascal1, Author
Sultan, Marc2, Author              
Herwig, Ralf3, Author              
Steinfath, Matthias1, Author
Balzereit, Daniela2, Author              
Eppens, Barbara1, Author
Saran, Nidhi G., Author
Pletcher, Mathew T., Author
South, Sarah T., Author
Stetten, Gail, Author
Lehrach, Hans4, Author              
Reeves, Roger H., Author
Yaspo, Marie-Laure2, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479652              
3Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479648              
4Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Human trisomy 21, which results in Down syndrome (DS), is one of the most complicated congenital genetic anomalies compatible with life, yet little is known about the molecular basis of DS. It is generally accepted that chromosome 21 (Chr21) transcripts are overexpressed by about 50% in cells with an extra copy of this chromosome. However, this assumption is difficult to test in humans due to limited access to tissues, and direct support for this idea is available for only a few Chr21 genes or in a limited number of tissues. The Ts65Dn mouse is widely used as a model for studies of DS because it is at dosage imbalance for the orthologs of about half of the 284 Chr21 genes. Ts65Dn mice have several features that directly parallel developmental anomalies of DS. Here we compared the expression of 136 mouse orthologs of Chr21 genes in nine tissues of the trisomic and euploid mice. Nearly all of the 77 genes which are at dosage imbalance in Ts65Dn showed increased transcript levels in the tested tissues, providing direct support for a simple model of increased transcription proportional to the gene copy number. However, several genes escaped this rule, suggesting that they may be controlled by additional tissue-specific regulatory mechanisms revealed in the trisomic situation.

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Language(s): eng - English
 Dates: 2004-07
 Publication Status: Published in print
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Title: Genome Research
  Alternative Title : Genome Res
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 14 (7) Sequence Number: - Start / End Page: 1258 - 1267 Identifier: ISSN: 1088-9051