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AssigneeMagainin Pharmaceuticals Inc.
InventorsRoy Clifford Levitt, Luigi Grasso, Nicholas C. Nicolaides, Kenneth J. Holroyd
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This invention relates to the diagnosis, treatment and methods for discovery of new therapeutics for atopic asthma and related disorders based on variants of Asthma Associated Factor 2. One embodiment of the invention is a variant of AAF2 wherein codon 173 is deleted resulting in the loss of glutamine 173 from the mature protein precursor. This single amino acid deletion results in a non-functional AAF2 protein and therefore the presence of this phenotype should be associated with less evidence of atopic asthma. Correspondingly, the lack of susceptibility to an asthmatic, atopic phenotype is characterized by the loss of glutamine at codon 173. The invention includes isolated DNA molecules which are variants of the wild type sequence as well as the proteins encoded by such DNA and the use of such DNA molecules and expressed protein in the diagnosis and treatment of atopic asthma.
An isolated DNA molecule having a nucleotide sequence encoding human interleukin-9 receptor selected from the group consisting of a sequence containing an G to A nucleic acid variant at position 1273, a sequence wherein nucleic acids 759-761(Seq. Id No. 3) have been deleted, a sequence wherein nucleic acids 613-617 (Seq. Id. No. 7) have been deleted, a sequence containing a stop codon at nucleic acids 435-437 (Seq. Id. No 5), a sequence wherein nucleic acids 613-641 (Seq. Id. No. 6) have been deleted, and fragments thereof.
An isolated DNA molecule having a nucleotide sequence encoding the 5th intron of the human IL-9 receptor wherein the nucleic acid 213 nucleic acids upstream from exon 6 has been changed from T to C.
An isolated RNA molecule having a nucleotide sequence encoding human interleukin-9 receptor selected from the group consisting of a sequence containing an A to G nucleic acid variant at position 1273, a sequence wherein nucleic acids 759-761 have been deleted, a sequence containing a stop codon at nucleic acids 435-437, a sequence wherein nucleic acids 613-617 have been deleted, a sequence wherein nucleic acids 613-641 have been deleted, a sequence wherein nucleic acids 1067-1151 have been deleted and fragments thereof.
A method of identifying antagonists of the IL-9 pathway comprising the steps of:
A method of identifying antagonists of the IL-9 pathway comprising the steps of:
A method for the specific amplification of exon 2 of the authentic human IL-9 receptor from genomic DNA by PCR using the compostition of claim 54 wherein the primers are described by SEQ ID NO 8 and SEQ ID NO 9.
A method for the specific amplification of exon 3 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 10 and SEQ ID NO 11.
A method for the specific amplification of exon 4 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 12 and SEQ ID NO 13.
A method for the specific amplification of exon 5 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 14 and SEQ ID NO 15.
A method for the specific amplification of exon 6 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 16 and SEQ ID NO 17.
A method for the specific amplification of exon 7 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 18 and SEQ ID NO 19.
A method for the specific amplification of exon 8 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 20 and SEQ ID NO 21.
A method for the specific amplification of exon 9 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 22 and SEQ ID NO 23.
A method for the specific amplification of intron 5 of the authentic human IL-9 receptor from genomic DNA by PCR using the composition of claim 54 wherein the primers are described by SEQ ID NO 14 and SEQ ID NO 17.
A method for detecting or diagnosing susceptibility to asthma or a related disorder in a human subject comprising determining the presence or absence of DNA encoding a non-functional interleukin-9 receptor variant encoded by said DNA wherein the presence of said DNA encoding a non-functional interleukin-9 receptor indicates less susceptibility to asthma or related disorders.
A composition comprising primers for the specific amplification of an authentic human IL-9 receptor selected from the group consisting of SEQ ID NOs 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22 or 23.
Dependencies are inferred from the claim text.