Objective
This project brings together the main European groups working on the mapping of, and diseases related to, chromosome 21: 12/13 participants have already been involved in collaborative work (BIOMED1) during which the genetic map was improved to a resolution better than 2cM; a physical map of the 21q arm has localised 6000 cosmids in 142 pockets ; 30% of the q arm has been covered with YAC contigs anchored on markers of the genomic map at a resolution of 50 kb; and a preliminary transcriptional map has been constructed identifying more than 150 new coding sequences out of the estimated 1000 genes on this chromosome. Among these coding sequences 10 have homologies with known genes in other species or are known genes but which have not previously been mapped.
The main objective of the present consortium is to contribute to the construction of a complete transcriptional map of HSA21 by identifying more than 80% of the coding sequences. The general strategy is i: construction of an accurate physical map for the telomeric region, for the proximal part of the q arm including a region duplicated in the normal chromosome and for the p arm; this map will be used to construct ready-to-sequence contigs in the regions potentially associated with diseases mapping of telomere and centromere will also give important information on their functionally important non coding sequences; ii: using exon trapping and cDNA selection with random cosmid pools or mapped cosmid contigs; iii:mapping back the coding sequences onto the physical map; iv: characterizing the expression pattern of the coding sequences with strong homologies to known genes.
The quality of the physical map and the clinical interest in a given region will determine the efforts expended in further study of the expression pattern or the gene functions: diseases associated with chromosome 21 and mapped to a region include: Down syndrome mapped in 2lq22.2 monosomy 21 with 10 features mapped in 21q22.1 progressive myoclonic epilepsy in 21q22.3 and autoimmunepolyglandular disease mapped in 21q22.3. In situ hybridizations experiments and construction of cellular and animal models of knock out and /or overexpression will be used to study candidate genes.
II- Pilot study for large scale sequencing: a subgroup of members of this consortium (4 participants) will sequence a part of the Down syndrome chromosomal region by using existing cosmid contigs located between ERG and D21S337.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- medical and health sciences basic medicine neurology epilepsy
- natural sciences biological sciences genetics chromosomes
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Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
75730 Paris
France
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.