AnEUploidy


General Background
Genomic aneuploidy, defined as an abnormal number of copies of a genomic region, is a common cause of human genetic disorders. Classically, the term aneuploidy was restricted to the presence of supernumerary copies of whole chromosomes (trisomy), or absence of chromosomes (monosomy), but this definition has been extended to include deletions or duplications of subchromosomal regions, i.e. partial aneuploidies (<10Mb) and more general CNVs (1kb-10Mb), on which the group worked on for years.

Objective
  • link abnormal phenotypes with gene copy number alterations
  • identify novel conditions due to aneuploidy
  • study the gene overexpression and transcriptome dysregulation in mouse embryonic stem cells
  • produce and study mouse models of aneuploidy
  • identify functional genomic elements that are important for aneuploidy
  • integrate and interpret the results of genome dysregulation

Project description
This workpackage focuses on the construction of a structural variability map of human chromosome 21, a human chromosome 21 segmental aneuploidy map, and on the understanding of its consequences and etiologic mechanisms. As technical platforms the ECARUCA database and various microarray-based gene dosage and/or gene expression facilities have been employed.

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