Open Access Research article

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

Mireia Vilardell12*, Axel Rasche1, Anja Thormann1, Elisabeth Maschke-Dutz1, Luis A Pérez-Jurado23, Hans Lehrach1 and Ralf Herwig1*

Author Affiliations

1 Department of Vertebrate Genomics, Max-Planck-Institute for Molecular Genetics, Ihnestr. 63-73, D-14195 Berlin, Germany

2 Unitat de Genètica, Universitat Pompeu Fabra, y CIBER de Enfermedades Raras (CIBERER), Parc de Recerca Biomèdica de Barcelona, C/Dr Aiguader, 88, 08003, Barcelona, Spain

3 Programa de Medicina Molecular I Genetica, Hospital Vall d'Hebron, 08035 Barcelona, Spain

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BMC Genomics 2011, 12:229  doi:10.1186/1471-2164-12-229

Published: 11 May 2011

Additional files

Additional file 1:

Supplementary tables. Table S1. Data sources used for meta-analysis. Table S2. The 324 candidate genes detected in the meta-analysis study. Table S3. Transcription factors and associated GO terms. Table S4. Cross-validation studies. Table S5. Functional annotation of novel candidates. Table S6. Fold-changes and qualitative data. Table S7. Human and mouse data overlap. Table S8. DS genes derived from meta-analysis of human data. Table S9. DS genes derived from meta-analysis of mouse data.

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Additional file 2:

Figure S1. Enrichment of GO categories for organ, tissue and cell development with respect to the significant HSA21 genes (red bars), the significant non-HSA21 genes (green bars) and the non-significant genes (blue bars).

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Additional file 3:

Figure S2. Genomic location of DS dosage effects in A) human B) mouse. Significant genes are marked in red, non-significant genes in white.

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Additional file 4:

Figure S3. A) Categorization of the 35 qualitative studies, B) Categorization of the 34 quantitative studies. C) Venn diagram of dosage effects detected with mouse and human data alone and with the combination of all data, D) correlation between average PCR and microarray values for the detected 324 dosage effects.

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Additional file 5:

Figure S4. Cross-validation with DS dosage effects detected with an HSA21 microarray [54]. Box-plots of meta-analysis scores (Y-axis) for class I and II (dosage effects) and class III and IV (compensation and variable expression) genes as judged by the authors.

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