Identification of a gene causing the most common form of Bardet-Biedl syndrome and uses thereof

Abstract

The present invention relates to the identification of a gene, mutated at the most common locus now designated BBS1, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypogonadism, mental retardation, renal cancer and other renal abnormalities, retinopathy and polydactyly or limb deformities. The human BBS1 protein disclosed herein is composed of 17 exons and spans approximately 23 kb. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.

1 - 31 . (canceled)  
     
     
         32 . A monoclonal antibody that binds immunologically to a polypeptide comprising the sequence of SEQ ID NO:2.  
     
     
         33 . The antibody of  claim 32 , wherein said antibody is bound to a support.  
     
     
         34 . A hybdridoma cells that produces a monoclonal antibody that binds immunologically to a polypeptide comprising the sequence of SEQ ID NO:2.  
     
     
         35 . A polyclonal antiserum, antibodies of which bind immunologically to a polypeptide comprising the sequence of SEQ ID NO:2  
     
     
         36 . The antiserum of  claim 35 , wherein antibodies of said antiserum are bound to a support.  
     
     
         37 . A method of diagnosing Bardet-Biedl Syndrome (BBS) comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         38 . (canceled)  
     
     
         39 . The method of  claim 37 , wherein said method comprises immunologic analysis using a BBS1-binding monoclonal antibody or polyclonal antiserum.  
     
     
         40 . The method of  claim 39 , wherein said immunologic analysis comprises ELISA, RIA, or Western blot.  
     
     
         41 - 47 . (canceled)  
     
     
         48 . A method of identifying an individual genetically predisposed to obesity comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         49 . A method of identifying an individual genetically predisposed to diabetes mellitus comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         50 . A method of identifying an individual genetically predisposed to renal defects comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         51 . A method of identifying an individual genetically predisposed to retinopathy comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         52 . A method of identifying an individual genetically predisposed to hypogonadism comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         53 . A method of identifying an individual genetically predisposed to mental retardation comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         54 . A method of identifying an individual genetically predisposed to polydactyly comprising identifying a mutation in a BBS1 polypeptide.  
     
     
         55 - 58 . (canceled)