Max Planck Institute for Molecular Genetics - Ihnestraße 63-73 - 14195 Berlin - Germany - Phone: (+49 30) 8413 0 - Fax: (+49 30) 8413 1394
  Max Planck Institute for Molecular Genetics - Ihnestraße 63-73 - 14195 Berlin - Germany - Phone: (+49 30) 8413 0 -
Fax: (+49 30) 8413 1394 -

Chromosome 21, Gene Expression and Regulation

Chromosome 21


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Scientific Overview

Group leader: Dr. Marie-Laure Yaspo

The group was originally focused on functional genomics studies of chromosome 21 genes (The Chromosome 21 mapping and sequencing consortium, Nature 2000) and regulatory elements (Warnatz et al. NAR 2010) and the molecular genetics of human trisomy 21, e.g. collaborating in the European integrated projects AnEUploidy (Sultan et al. Genome Biol. 2007) and EURExpress (Diez-Roux et al. PLoS Biol. 2011).

More recently, we have expanded our interest to the analysis of global gene expression patterns and regulatory networks in mammalian systems. Global genomics and transcriptomics are now addressed by next generation sequencing, namely genome sequencing, RNA-seq, ChIP-seq and MeDIP-seq.

In a pilot project, we compared expression profiles and alternative splicing patterns of human B cells and HEK293T (Sultan et al. Science 2008). In the EU integrated project AnEUploidy, we have analyzed the gene regulatory networks controlled by transcription factors of human chromosome 21 (Warnatz et al. JBC 2011) and are expanding this analysis to 45 additional transcription factors involved in various human diseases. We also apply our approach of combining ChIP-seq and knockdown analysis in the EU collaborative project TRIREME to obtain a systems-level, multi-layer understanding of the DNA damage response.

Another major focus of our group is the systems biology of human pathologies such as steatohepatitis (IMGuS project), early onset prostate cancer (ICGC Prostate Cancer), pediatric brain tumors (ICGC PedBrain project) and melanoma (TREAT20 project). TREAT20 is a pilot project which aims to bring the benefits of recent progress in molecular characterization technologies and systems biology directly into the clinical care setting. This pilot project is a first step to validate the application of the combination of next generation sequencing and computer models towards developing targeted clinical trials for metastatic melanoma patients (in collaboration with the Charité Comprehensive Cancer Center, P. M. Schlag).




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