Corneodesmosin based test and model for inflammatory disease
a corneodesmosin and test technology, applied in the field of corneodesmosin based test and model for inflammatory diseases, can solve the problem that the specific involvement of the hla-cw6 genotype in disease pathogenesis has yet to be established
Inactive Publication Date: 2008-08-14
YORK PHARMA R & D
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Benefits of technology
The present invention relates to the use of nucleotide substitutions, deletions, or insertions in the corneodesmosin gene to detect and treat corneodesmosin-mediated diseases, such as inflammatory diseases like psoriasis. The invention is based on the discovery of polymorphisms in the corneodesmosin gene that are associated with susceptibility to these diseases. The invention provides methods for identifying and treating these diseases by screening for and targeting the specific polymorphisms in the corneodesmosin gene. The invention also includes polynucleotides encoding the corneodesmosin protein and transgenic non-human animals expressing these polynucleotides. The use of nucleotide polymorphisms in the corneodesmosin gene to detect and treat disease is expected to improve the accuracy of diagnosis and treatment, and to increase the cost-effectiveness of health-care provision.
Problems solved by technology
However, specific involvement of the HLA-Cw6 genotype in disease pathogenesis has yet to be established.
In some cases, however, an allele of a polymorphism does not create a restriction enzyme site, and one must be artificially introduced.
Method used
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Determination of Gene Structure
[0074]The mRNA sequence of the corneodesmosin gene (GenBank Accession ID NM—001264) was used to screen the following public DNA databases: (available through the National Centre for Biotechnology Information Web site—www.ncbi.nlm.nih.gov); NR (Non-Redundant DNA), HTGS (High Throughput Genomic Sequence), and GSS (Genome Survey Sequence). The analysis was performed using the BLASTN algorithm (Altschul et al. (1990) J. Mol. Biol. 215:403-410). Any genomic sequences containing the corneodesmosin gene were identified by their degree of sequence identity. The gene structure was determined by comparison of the mRNA sequence with the genomic clones, The deduced exon-intron organisation of the corneodesmosin gene is presented in FIG. 3.
[0075]Oligonucleotide Primer Design—for Corneodesmosin Gene Sequencing
[0076]Five pairs of oligonucleotide primers (S1F / S1R; S2.1F / S2.1R; S2.2F / S2.2R; S2.3F / S2.3R; S2.4F / S2.4R, S2.5F / S2.5R—Table 1) were designed to amplify exons 1...
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Abstract
The present invention relates to a polynucleotide encoding the corneodesmosin protein having one or more nucleotide insertions, deletions, or substitutions at one or more novel positions. The invention also relates to the corneodesmosin protein having one or more amino acid insertions, deletions, and substitutions. These nucleotide and amino acid polymorphisms are useful in diagnosing or determining susceptibility to corneodesmosin-mediated disease, such as inflammatory diseases, including psoriasis, and in treating such disease. Host cells and transgenic non-human animals comprising polynucleotides or proteins of the invention are provided. Methods of screening for agents for use in treating corneodesmosin-mediated disease are also provided.
Description
CROSS-REFERENCE TO RELATED APPLICATIONS[0001]This is a divisional of U.S. application Ser. No. 10 / 204,884, filed Jan. 29, 2003, which is the National Stage of International Application No. PCT / GB01 / 00795, filed Feb. 23, 2001, which claims priority from GB 0004312.5, filed Feb. 23, 2000.FIELD OF THE INVENTION[0002]The present invention relates to nucleotide substitutions, deletions, or insertions in the corneodesmosin gene, and the exploitation of these polymorphisms in the detection and / or treatment of corneodesmosin-mediated disease, such as inflammatory diseases, including psoriasis. The present invention also relates to polynucleotides encoding the corneodesmosin protein having one or more nucleotide polymorphisms, and to proteins encoded by said polynucleotides. Also provided are transgenic non-human animals comprising the polynucleotides of the present invention, and methods and kits for treating, diagnosing, or determining susceptibility to corneodesmosin-mediated disease, in ...
Claims
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IPC IPC(8): C12Q1/68A61K38/00C07K14/47C12N15/12
CPCA01K2217/05C07K14/47A61K38/00
Inventor OLAVESEN, MARKLENCH, NICKALLEN, MAXINETAZI-AHNINI, RACHID
Owner YORK PHARMA R & D