Human Chromosome 21

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

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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 and molecular genetics of human trisomy 21 (e.g. AnEUploidy European integrated project started in 2006):

In situ hybridisation pattern of ACSL5 in mouse E14.5

1) Activity and evolution of promoter elements
2) protein-protein interaction networks
3) expression profiling of trisomy 21 tissues

More recently, we have expanded our interest to the analysis of global gene expression patterns and regulatory networks in mammalian systems. The team is a partner of EURExpress (European integrated project started in 2005) that established a high resolution expression atlas in the mouse by RNA in situ hybridization, identifying specific gene patterns and co-expression groups in embryonic structures at E14.5.

Global transcriptomics is now addressed by new generation sequencing, namely RNA-Seq (coop. with A. Soldatov and T. Borodina). In a pilot project, we compared expression profiles and alternative splicing patterns of human B cells and HEK293T (Sultan et al. Science 2008).

RNA-seq and ChIP-seq results at HOXB2 gene

In the analysis of gene regulatory networks, we rely on several independent approaches. We have knocked-down ca. 150 human transcription factors (TF) in HEK293 cells and analysed the corresponding cell transcriptomes to identify potential TF targets. For TFs mapping to HSA21, we are additionally identifying gene targets and DNA-binding sites by chromatin immunoprecipitation followed by direct sequencing (ChIP-seq).

In a challenging approach, we are exploiting mouse consomic strains (parental strains PWD and B6) as a genetic tool to identify regulators of gene expression by means of RNA-Seq analysis of all consomic and parental strains.