Gridlock nucleic acid molecules, polypeptides, and diagnostic and therapeutic methods

Abstract

The invention provides a novel gene, gridlock, and its encoded protein. gridlock plays a role in vascular development and modeling, and a mutation in gridlock has been associated with an aortic arch disease, coarctation. Thus, gridlock nucleic acid molecules and polypeptides can be used in methods of diagnosing, treating, and preventing gridlock-related diseases and conditions, such as aortic arch diseases.

1 - 42 . (canceled)  
     
     
         43 . An antibody or antibody fragment that specifically binds to a gridlock polypeptide or a fragment thereof.  
     
     
         44 . The antibody of  claim 43 , wherein the polypeptide comprises the amino acid sequence of SEQ ID NO:2 or SEQ ID NO:4.  
     
     
         45 . The antibody of  claim 43 , wherein the antibody is a monoclonal antibody.  
     
     
         46 . The antibody of  claim 43 , wherein the antibody is a polyclonal antibody.  
     
     
         47 . The antibody of  claim 43 , wherein the antibody is a chimeric antibody.  
     
     
         48 . The antibody of  claim 43 , wherein the antibody is a humanized antibody.  
     
     
         49 . The antibody of  claim 43 , wherein the antibody is a human antibody.  
     
     
         50 . The antibody of  claim 43 , wherein the antibody is a single chain antibody.  
     
     
         51 . The antibody of  claim 43 , wherein the antibody is an antibody fragment.  
     
     
         52 . A method of detecting the presence of a gridlock polypeptide in a sample, said method comprising contacting the sample with an antibody that specifically binds to a gridlock polypeptide and assaying for binding of said antibody to said polypeptide.  
     
     
         53 . The method of  claim 52 , wherein the gridlock polypeptide comprises the amino acid sequence of SEQ ID NO:2 or SEQ ID NO:4.  
     
     
         54 . The method of  claim 52 , wherein the method comprises an enzyme-linked immunosorbent assay (ELISA).  
     
     
         55 . The method of  claim 52 , wherein the method comprises Western blot analysis.  
     
     
         56 . The method of  claim 52 , wherein the sample is from a subject who has or is suspected of having cardiovascular disease.  
     
     
         57 . The method of  claim 56 , wherein the cardiovascular disease is aortic arch disease.  
     
     
         58 . The method of  claim 56 , further comprising comparison of the level of gridlock in the sample with a corresponding sample from an unaffected subject.  
     
     
         59 . A method of detecting the presence of a mutant gridlock polypeptide in a sample, said method comprising contacting said sample with an antibody that binds to a mutant gridlock polypeptide and assaying for binding of said antibody to said mutant polypeptide.  
     
     
         60 . The method of  claim 59 , wherein the antibody is specific for the mutant gridlock polypeptide.  
     
     
         61 . The method of  claim 59 , wherein the sample is from a subject who has or is suspected of having cardiovascular disease.  
     
     
         62 . The method of  claim 61 , wherein the cardiovascular disease is aortic arch disease.