Cloning, expression and characterization of the SPG4 gene responsible for the most common form of autosomal dominant spastic paraplegia

Abstract

The invention concerns the identification and characterization of the SPG4 gene encoding spastin, and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia, to the cloning and characterization of its cDNA and the corresponding polypeptides. The invention also concerns vectors, transformed cells and transgenic animals as well as diagnostic methods and kits, and methods for selecting a chemical or biological compound capable of directly or indirectly interacting with said polypeptide.

1 - 36 . (canceled)  
     
     
         37 . A nucleic acid that comprises at least 15 consecutive nucleotides of SEQ ID NO:1 or at least 15 consecutive nucleotides of the complement of SEQ ID NO:1.  
     
     
         38 . A nucleic acid that comprises any of the sequences SEQ ID NO:4 through SEQ ID NO:71.  
     
     
         39 . A method of preparing a segment of the human SPG4 gene for DNA sequencing or hybridization, said method comprising amplifying said segment of the SPG4 gene with a nucleic acid of  claim 37  as at least one of a pair of primers.  
     
     
         40 . A method of detecting a segment of the human SPG4 gene, said method comprising linking a label or activity to a nucleic acid of  claim 37 , hybridizing said nucleic acid to nucleic acid extracted from human cells, and detecting hybrid molecules by detecting the label or activity, thereby detecting a segment of the human SPG4 gene.