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The database has been established under a relational database management system (DBMS) and the functional development of the basic features is
complete. More than 10450 sets of data have been entered up to now. So far, PathoDB comprises some thalassemias, caused by mutations in the regulatory regions of the different globin genes, and early developmental disturbances.
The latter defects include dwarfisms evoked by mutations or chromosomal rearrangements in the genes for the transcription factors Pit-1 or Prop-1 and neural crest differentation defects caused by mutations of several Pax genes. A
large amount of mutated transcription factors which lead to different types of cancer are regarded, too. The different mutated factors (MuFactor) and mutated sites (MuSite) as well as the resulting diseases, regarded in PathoDB,
are listed in the above table. The range of organisms admitted to PathoDB is planned to be as broad as it is in TRANSFAC. However, at the moment only human and murine defects are considered, with special emphasis on the human
organism whose genetic diseases might be of greatest interest for medical research, like the wide field of oncological diseases.
For primary WWW access we are going to compile an ASCII flat file version. We finally aim at making the relational PathoDB accessible online. |
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Heinemeyer, T., Chen, X., Karas, H., Kel, A. E., Kel, O. V., Liebich, I., Meinhardt, T., Reuter, I., Schacherer, F. and Wingender, E.
(1999): Expanding the TRANSFAC database towards an expert system of regulatory molecular mechanisms. Nucleic Acids Res. 27, 318-322 |