Nucleotide sequence which encodes a flavin monooxygenase, the corresponding protein and their uses in the spheres of diagnosis and therapy

Abstract

The present invention concerns, in particular, human flavin-containing monooxygenase 2 (hFMO2), and another human enzyme of the FMO, hFMOx family, their nucleotide and polypeptide sequences. The present invention also concerns vectors for cloning and/or expression containing said nucleotide sequences and cells transformed by these vectors and method for preparing said polypeptides. The invention further concerns methods for selecting compounds and of diagnosing predisposition to pathologies and/or deficiencies related to FMO's and pharmaceutical compositions containing said compounds for treating and/or preventing these pathologies.

1 . A method of diagnosing predisposition to juvenile primary open-angle glaucoma (jPOAG) comprising analyzing a biological sample for a mutation in at least one sequence, wherein said sequence comprises SEQ ID NO: 3 and said mutation is the substitution of a lysine for a glutamic acid at position 402 of SEQ ID NO: 3 or the substitution of an A for a G in at a position corresponding to nucleotide 24433 of SEQ ID NO: 1.  
     
     
         2 . The method according to  claim 1 , wherein said biological sample is genomic DNA, cDNA or mRNA.  
     
     
         3 . The method according to  claim 2 , wherein all or a part of the nucleic acid sequence is analyzed for the substitution of an A for a G at a position corresponding to nucleotide 24433 of SEQ ID NO: 1.  
     
     
         4 . The method according to  claim 3 , wherein said analyzing step comprises amplifying a nucleic acid sequence comprising the nucleotide corresponding to nucleotide 24433 of SEQ ID NO: 1.  
     
     
         5 . The method according to  claim 4 , wherein said nucleic acid sequence comprises a span of 10, 20 or 30 nucleotides.  
     
     
         6 . The method according to  claim 2 , wherein said biological sample is genomic DNA.  
     
     
         7 . The method according to  claim 2 , wherein said biological sample is cDNA.  
     
     
         8 . The method according to  claim 2 , wherein said biological sample is mRNA.  
     
     
         9 . The method according to  claim 3 , wherein said biological sample comprises SEQ ID NO: 3.  
     
     
         10 . The method according to  claim 9 , wherein said analyzing step comprises contacting a polypeptide comprising SEQ ID NO: 3 with an antibody to detect the presence of said polypeptide.  
     
     
         11 . The method according to  claim 10 , wherein said antibody is labeled with a detectable molecule.