Interleukin-9 receptor mutants

Abstract

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 171 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.

1 . 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 435437 (SEQ ID NO: 5), a sequence wherein nucleic acids 613-641 (SEQ ID NO: 6) have been deleted, and fragments thereof. 
     
     
         2 . The isolated DNA molecule of  claim 1 , wherein the sequence contains an G to A nucleic acid variant at position 1273 or fragments thereof. 
     
     
         3 . The isolated DNA molecule of  claim 1 , wherein nucleic acids 759-761 (SEQ ID NO: 3) have been deleted or fragments thereof. 
     
     
         4 . (canceled) 
     
     
         5 . The isolated DNA molecule of  claim 1 , wherein nucleic acids 613-617 (SEQ ID NO: 7) have been deleted or fragments thereof. 
     
     
         6 . The isolated DNA molecule of  claim 1 , wherein nucleic acids 613-641 (SEQ ID NO: 6) have been deleted or fragments thereof. 
     
     
         7 . The isolated DNA molecule of  claim 1 , wherein nucleic acids 1067-1151 (SEQ ID NO: 4) have been deleted or fragments thereof. 
     
     
         8 - 9 . (canceled) 
     
     
         10 . The isolated RNA molecule of claim  9 , wherein the sequence contains an A to G nucleic acid variant at position 1273 or fragments thereof. 
     
     
         11 . The isolated RNA molecule of claim  9 , wherein nucleic acids 759-761 have been deleted or fragments thereof. 
     
     
         12 . (canceled) 
     
     
         13 . The isolated RNA molecule of claim  9 , wherein nucleic acids 613-617 have been deleted or fragments thereof. 
     
     
         14 . The isolated RNA molecule of claim  9 , wherein nucleic acids 613-641 have been deleted or fragments thereof. 
     
     
         15 . The isolated RNA molecule of claim  9 , wherein nucleic acids 1067-1151 have been deleted or fragments thereof. 
     
     
         16 . An isolated protein molecule having an amino acid sequence encoding human interleukin-9 receptor selected from the group consisting of a sequence containing a Histidine at position 344, a sequence wherein Glutamine 173 has been deleted, a sequence wherein the molecule is terminated after amino acid 64, a sequence wherein the molecule is encoded by the DNA of  claim 4 , a sequence wherein the molecule is encoded by the DNA of  claim 5  or fragments thereof. 
     
     
         17 . The isolated protein molecule of  claim 16 , wherein the sequence contains a histidine at position 344 or fragments thereof. 
     
     
         18 . The isolated protein molecule of  claim 16 , wherein glutamine 173 has been deleted or fragments thereof. 
     
     
         19 . The isolated protein molecule of  claim 16 , wherein the molecule is terminated after amino acid 64 or fragments thereof. 
     
     
         20 . The isolated protein molecule of  claim 16 , wherein the molecule is encoded by the DNA of  claim 5  or fragments thereof. 
     
     
         21 . The isolated protein molecule of  claim 16 , wherein the molecule is encoded by the DNA of  claim 6  or fragments thereof. 
     
     
         22 - 55 . (canceled)