Objective
Complementary deoxyribonucleic acid (cDNA) sequences corresponding to the steroid sulphatase (STS) gene have been isolated and have allowed investigation of the molecular defect involved in patients with STS deficiency. Results demonstrated a deletion of the STS gene in the DNA of a majority of X-linked ichthyosis (XLI) patients. The STS locus was found to be on the distal part of the short arm of the X-chromosome, a region which escapes X-inactivation and shares homology with both the short and the long arm of the Y chromosome. A deletion of the STS gene was also found in 2 patients with a complex phenotype, resulting from the association of XLI with Kallman Syndrome (KS). This suggests there is a contiguous gene syndrome where a deletion of the STS and the X-linked KS loci was the basic defect.
Steroid sulphatase (STS) deficiency is the basic defect of X-linked ichthyosis (XLI), one of the most commpun X-linked diseases (frequency of 1/6000 males). The project intends to define at the molecular level the deletion present in the majority of XLI patients, identify and isolate the genes responsible for the Kallmann syndrome closely linkied to XLI, characterize the sequencing and in situ hybridization the sequences present on both the X and Y chromosomes isolated during the chromosome walking.
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.
- natural sciences biological sciences molecular biology molecular genetics
- natural sciences biological sciences genetics DNA
- natural sciences biological sciences genetics chromosomes
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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
80125 NAPOLI
Italy
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