DNALIGHTMAP (322249)

  https://cordis.europa.eu/project/id/322249

  FP7 (2007-2013)

  Mapping structural variation on native chromosomal DNA – a single molecule approach

  Marie-Curie Action: "Career Integration Grants" (FP7-PEOPLE-2012-CIG)

  muscular dystrophies  ·  DNA  ·  microscopy  ·  chromosomes  ·  genomes

  2012-09-01 Start Date (YY-MM-DD)

  2016-08-31 End Date (YY-MM-DD)

  € 100,000 Total Cost

  Description

This proposal seeks to utilize single molecule optical detection to directly visualize and analyze genome structural and copy number variation (SVs & CNVs) spanning up to hundreds kb of native chromosomal DNA . The project focuses on a pathogenic macro satellite repeat in the subtelomere of chromosome 4q that is linked to the third most common inherited muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD). Specific sequences on subtelomeres are labeled with fluorescent molecules via enzymatic reactions to create a unique, chromosome specific fluorescence pattern. The DNA is then stretched in thousands of parallel nanochannels by electrophoresis and imaged on a fluorescence microscope. The resulting patterns along the DNA backbone are compared to a reference map computed from the known genome sequence and variations from the reference are classified and characterized. Specifically, we will be able to count the exact number of repeat blocks in pathogenic vs. non-pathogenic chromosomes. The immediate outcome of this project is a powerful diagnostic tool for FSHD and a proof of principle for single molecule, high throughput structural variation analysis on a genomic scale.

  Complicit Organisations

1 Israeli organisation participates in DNALIGHTMAP.