Tbx3 gene and methods of using it

Abstract

The present invention relates to all facets of a novel polynucleotide, Tbx3-pr408, the polypeptides it encodes, antibodies and specific binding partners thereto, and their applications to research, diagnosis, drug discovery, therapy, clinical medicine, forensic science and medicine, etc. The polynucleotides 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, such as mammary-ulnar syndrome and other developmental disorders.

1 . An isolated Tbx3-pr408 polynucleotide which codes without interruption for an amino acid sequence set forth in SEQ ID NO 2, a polynucleotide sequence having 97% or more sequence identity to the polynucleotide sequence set forth in SEQ ID NO 1 and which codes without interruption for Tbx3-pr408, or complements thereto.  
     
     
         2 . An isolated polynucleotide of  claim 1 , having transcriptional regulatory activity.  
     
     
         3 . An isolated Tbx3-pr408 polypeptide comprising, 
 the amino acid sequence set forth in SEQ ID NO 2, or an amino acid sequence having 99% or more sequence identity to the amino acid sequence set forth in SEQ ID NO 2 and which has transcriptional regulatory activity.    
     
     
         4 . An isolated polypeptide, 
 selected from the amino acid sequence 596-608 of SEQ ID NO 2 which is specific for Tbx3-Pr408.    
     
     
         5 . An antibody which is specific-for a polypeptide of  claim 4 .  
     
     
         6 . A method of diagnosing a disorder in a subject associated with Tbx3-pr408, or determining a subject's susceptibility to such disease, comprising: 
 assessing the expression of Tbx3-pr408 of  claim 1  in a tissue sample from said subject.    
     
     
         7 . A method of  claim 6 , wherein assessing is: 
 measuring expression levels of said gene, determining the genomic structure of said gene, determining the mRNA structure of transcripts from said gene, or measuring the expression levels of polypeptide coded for by said gene.    
     
     
         8 . A method of  claim 7 , wherein the expression of Tbx3-pr408 and XM — 016321 are assessed.  
     
     
         9 . A method of  claim 6 , wherein said assessing 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, 3, 4, or 5, effective specific fragments thereof, or complements thereto.    
     
     
         10 . A method for identifying an agent that modulates the transcriptional regulatory activity of Tbx3-pr408, comprising, 
 contacting Tbx3-pr408 of  claim 1 , or a biologically-active fragment thereof which comprises Tbx3-pr408 specific sequence, with a test agent under conditions effective for said test agent to modulate its transcriptional regulatory activity, and    determining whether said test agent modulates said Tbx3-pr408.    
     
     
         11 . A method of  claim 10 , wherein said agent is an antibody specific for a polypeptide comprising amino acids 596-608, or a polypeptide comprising amino acids 215-225.  
     
     
         12 . A method of detecting Tbx transcripts in a tissue sample, comprising 
 assessing the expression of a Tbx3-pr408 transcript of  claim 1  in a tissue sample, and    assessing the expression of a Tbx3 transcript comprising a T box insertion.    
     
     
         13 . A method of  claim 12 , wherein assessing is: 
 measuring expression levels of said gene, determining the genomic structure of said gene, determining the mRNA structure of transcripts from said gene, or measuring the expression levels of polypeptide coded for by said gene.    
     
     
         14 . A method of  claim 13 , wherein the expression of Tbx3-pr408 and XM — 016321 are assessed.  
     
     
         15 . A mammalian cell, comprising an exogenous polynucleotide of  claim 1 .  
     
     
         16 . A method of advertising Tbx3-pr4-8 for sale, commercial use, or licensing, comprising, 
 displaying in a computer-readable medium a polynucleotide, or polypeptide sequence thereto, of  claim 1 , effective specific fragments thereof, or complements thereto.