Novel component in the hedgehog signalling pathway

Abstract

The present invention relates to a novel human patched-like gene (PTCH2), which for the first time has been cloned and sequenced. Several alternatively spliced mRNA forms of PTCH2 have been identified, including transcripts lacking segments thought to be involved in sonic hedgehog (SHH) binding and mRNAs with differentially defined 3′ terminal exons. Further, the invention also relates to the protein encoded by the present PTCH2 as well as to functional analogues and variants thereof.

1 . An isolated human protein capable of participating in the human PTCH/SHH pathway during embryonic development and/or carcinogenesis, which is essentially comprised of SEQ ID NO: 1.  
     
     
         2 . An isolated human protein capable of participating in the human PTCH/SHH pathway during embryonic development and/or carcinogenesis, which comprises at least about 1000 amino acids as listed in SEQ ID NO:1.  
     
     
         3 . An isolated human protein capable of participating in the human PTCH/SHH pathway during embryonic development and/or carcinogenesis, which comprises at least about 1040 amino acids as listed in SEQ ID NO: 1  
     
     
         4 . An isolated human protein capable of participating in the human PTCH/SHH pathway during embryonic development and/or carcinogenesis, which comprises at least about 1100 amino acids as listed in SEQ ID NO:1.  
     
     
         5 . A medicament, comprising: a protein according to any of claims  1 - 4 , or a nucleic acid encoding a protein according to any of claims  1 - 4 .  
     
     
         6 . A method of treating a condition involving tumors, comprising: 
 administering a protein according to any of claims  1 - 4 , or a nucleic acid encoding a protein according to any of claims  1 - 4  to a patient in need thereof.    
     
     
         7 . A method of in vitro or in vivo diagnosis, wherein a protein according to any of claims  1 - 4 , or a nucleic acid encoding a protein according to any of claims  1 - 4 , is used.  
     
     
         8 . A method of screening wherein a library of suitable candidate compounds is screened for modified drugs using a protein according to any of claims  1 - 4 , as a lead compound.  
     
     
         9 . A method of synthesis of a modified drug, wherein a protein according to any of claims  1 - 4  is used.  
     
     
         10 . A modified drug identified by the method according to  claim 8 , or synthesized according to  claim 9 .  
     
     
         11 . An antibody which specifically binds to a protein according to any of claims  1 - 4 .  
     
     
         12 . A recombinant cell expressing an antibody according to  claim 11 .  
     
     
         13 . A kit for the detection of a human PTCH2 polypeptide comprising in a container a molecule selected from the group consisting of a protein according to any of claims  1 - 4 , or an antibody which specifically binds to a protein according to any of claims  1 - 4 .  
     
     
         14 . Use of a nucleic acid encoding a protein according to any of claims  1 - 4 , in gene therapy.  
     
     
         15 . Use of a nucleic acid encoding a protein according to any of claims  1 - 4  as a probe, a primer, or a diagnostic reagent.