Human TBX20 gene and uses

Abstract

The present invention relates to all facets of novel polynucleotides, the polypeptides they encode, antibodies and specific binding partners thereto, and their applications to research, diagnosis, drug discovery, therapy, clinical medicine, forensic science and medicine, etc. The polynucleotides are expressed in heart and are therefore useful in variety of ways, including, but not limited to, as molecular markers, as drug targets, and for detecting, diagnosing, staging, monitoring, prognosticating, preventing or treating, determining predisposition to, etc., diseases and conditions of the heart and eye.

1 . An isolated polynucleotide comprising, 
 a human Tbx20 polynucleotide sequence set forth in SEQ ID NO 1, or a complement thereto.    
     
     
         2 . An isolated polynucleotide which codes without interruption for a human Tbx20 amino acid sequence of  claim 1  as set forth in SEQ ID NO 1, or a complement thereto.  
     
     
         3 . An isolated polynucleotide comprising, 
 a human Tbx20 polynucleotide sequence having 99% or more sequence identity to the polynucleotide sequence set forth in SEQ ID NO 1 and which codes without interruption for Tbx20, or a complement thereto, and which has a transcription regulatory activity.    
     
     
         4 . An isolated polynucleotide which is specific for human Tbx20 of  claim 1  and which codes for a polypeptide, said polypeptide comprising amino acid 319, 326, 332, 333, and/or 364 as set forth in SEQ ID NO 2.  
     
     
         5 . An isolated polynucleotide of  claim 4  coding for a polypeptide comprising amino acids 298-447 as set forth in SEQ ID NO 1.  
     
     
         6 . An isolated polynucleotide of  claim 4 , wherein said fragment is effective in a polymerase chain reaction.  
     
     
         7 . An isolated polypeptide of  claim 1  comprising, 
 the human Tbx20 amino acid sequence set forth in SEQ ID NO 2.    
     
     
         8 . An isolated polypeptide, 
 selected from the amino acid sequence of 298-447 and which is specific for human TBx20 of  claim 7 .    
     
     
         9 . An isolated polypeptide comprising a human Tbx20 amino acid sequence having 99% or more sequence identity to the amino acid sequence set forth in SEQ ID NO 1, and which has transcription regulatory activity.  
     
     
         10 . A method of treating a disease of heart showing altered expression of Tbx20 of  claim 1 , comprising: 
 administering to a subject in need thereof a therapeutic agent which is effective for regulating expression of said Tbx20.    
     
     
         11 . A method of  claim 10 , wherein said agent is an antibody or an antisense which is effective to inhibit translation of said gene.  
     
     
         12 . A method of detecting human Tbx20 of  claim 1  in a sample, comprising: 
 contacting a sample comprising nucleic acid or polypeptides with a polynucleotide which is specific for human Tbx20 polynucleotide, or a binding partner which is specific for human Tbx20 polypeptide under conditions effective for said polynucleotide or binding partner to bind to said Tbx20, and    determining whether polynucleotide or binding partner binds to said Tbx20.    
     
     
         13 . A method of  claim 12 , wherein said determining is detecting is performed by: 
 Northern blot analysis, polymerase chain reaction (PCR), reverse transcriptase PCR, RACE PCR, or in situ hybridization, and    using a polynucleotide probe having a sequence selected from SEQ ID NO 1, a polynucleotide having 99% sequence identity or more to a sequence set forth in SEQ ID NO 1, effective specific fragments thereof, or complements thereto.    
     
     
         14 . A method for identifying an agent that modulates the expression of Tbx20 of  claim 1  in heart cells, cells derived from heart, or heart progenitor cells, comprising, 
 contacting a cell population comprising said cells with a test agent under conditions effective for said test agent to modulate the expression of Tbx20 in said cells, and    determining whether said test agent modulates said Tbx20.    
     
     
         15 . A method of  claim 16 , wherein said agent is an antisense polynucleotide to a target polynucleotide sequence selected from SEQ ID NO 1 and which is effective to inhibit translation of said Tbx20.  
     
     
         16 . A method of detecting polymorphisms in Tbx20 of  claim 1  comprising: 
 comparing the structure of: genomic DNA comprising all or part of Tbx20, mRNA comprising all or part of Tbx20, cDNA comprising all or part of Tbx20, or a polypeptide comprising all or part of Tbx20, with the structure of Tbx20 set forth in SEQ ID NO 1.    
     
     
         17 . A method of  claim 16 , wherein said polymorphism is a nucleotide deletion, substitution, inversion, or transposition.  
     
     
         18 . A mammalian cell whose genome comprises a recombinant Tbx20 of  claim 1  operatively linked to an expression control sequence effective to express said gene in heart cells, cells derived from heart, or heart progenitor cells.  
     
     
         19 . A method of advertising Tbx20 of  claim 1  for sale, commercial use, or licensing, comprising, 
 displaying in a computer-readable medium a polynucleotide set forth in SEQ ID NO  1 , effective specific fragments thereof, or complements thereto.    
     
     
         20 . An antibody which is specific for an epitope of human Tbx20 of  claim 1  selected from the amino acids 310-447.  
     
     
         21 . A method of selecting human Tbx20 from a database comprising polynucleotide sequences, comprising 
 displaying, in a computer-readable medium, a polynucleotide sequence or polypeptide sequence for human Tbx20 of  claim 1 , or complements to the polynucleotides sequence,    wherein said displayed sequences have been retrieved from said database upon selection by a user.