Fanconi-gen II

• US 20030022858A1
• Filed: 07/19/2002
• Published: 01/30/2003
• Est. Priority Date: 04/07/1997
• Status: Abandoned Application

• Current Assignee: Andreas Machl, Manfred Kubbies, Simone Planitzer
• Original Assignee: Andreas Machl, Manfred Kubbies, Simone Planitzer
• Inventors: Machl, Andreas, Planitzer, Simone, Kubbies, Manfred
• Application Number:
  US10/199,448
• Publication Number:
  US 20030022858A1
• Time in Patent Office: Days
• US Class Current: 514/44
• CPC Class Codes: A61K 38/00 Medicinal preparations containing peptides peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00
• CPC Class Codes: A61K 48/00 Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
• CPC Class Codes: C07K 14/47 from mammals
• CPC Class Codes: C07K 16/18 against material from animals or humans
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 2600/158 Expression markers
• CPC Class Codes: G01N 33/6893 related to diseases not provided for elsewhere

Abstract

The present invention concerns a pathophysiologically relevant gene associated with Fanconi anaemia (FA), a polypeptide coded thereby, an antibody directed against the polypeptide as well as the pharmaceutical applications of the nucleic acid, polypeptide and antibody.

Claims

1. Nucleic acid,

wherein

it comprises

(a) the nucleotide sequence shown in SEQ ID NO. 1 or a protein-coding section thereof,

(b) a nucleotide sequence corresponding to the sequence from (a) within the scope of the degeneracy of the genetic code or

(c) a nucleotide sequence hybridizing with the sequences from (a) or/and (b) under stringent conditions,

provided that the nucleic acid is different from the nucleotide sequences with the accession numbers W44613, W44574 and g1664579 specified in the EMBL EST data bank.

2. Nucleic acid as claimed in claim 1,

wherein

it comprises a protein-coding section of the nucleotide sequence shown in SEQ ID NO. 1.

3. Nucleic acid as claimed in claim 1,

wherein

it has a homology of more than 80% to the nucleotide sequence shown in SEQ ID NO. 1 or to a section thereof.

4. Modified nucleic acid or nucleic acid analogue which comprises a nucleotide sequence as claimed in one of the claims 1-3.

5. Vector,

wherein

it contains at least one copy of a nucleic acid as claimed in one of the claims 1 to 3 or a section thereof.

6. Vector as claimed in claim 5,

wherein

it enables the expression of the nucleic acid in a suitable host cell.

7. Cell,

wherein

it is transformed with a nucleic acid as claimed in one of the claims 1 to 3 or with a vector as claimed in claim 5 or 6.

8. Polypeptide,

wherein

it is coded by a nucleic acid as claimed in one of the claims 1 to 3, whereby the provision of claim 1 does not have to be taken into consideration.

9. Polypeptide as claimed in claim 8,

wherein

it has

(a) the amino acid sequence from 1-223 shown in SEQ ID NO. 2,

(b) the amino acid sequence from amino acid 59-223 shown in SEQ ID NO. 2 or

(b) a homology of more than 70% to one of the amino acid sequences according to (a) or (b).

10. Use of a polypeptide as claimed in claim 8 or 9 or of fragments of this polypeptide as an immunogen for the production of antibodies.

11. Antibody against a polypeptide as claimed in claim 8 or 9.

12. Antibody as claimed in claim 11,

wherein

it is directed against the entire polypeptide or against a peptide sequence corresponding to the amino acids 1-40, 59-120 or 205-223 from SEQ ID NO. 2.

14. Pharmaceutical composition,

wherein

it comprises as the active component

(a) a nucleic acid claimed in one of the claims 1 to 4, whereby the provision of claim 1 does not have to be taken into consideration,

(b) a vector as claimed in claim 5 or 6,

(c) a cell as claimed in claim 7,

(d) a polypeptide as claimed in claim 8, 9 or 13 or/and

(e) an antibody as claimed in claim 11 or 12.

15. Composition as claimed in claim 14,

wherein

it additionally contains common pharmaceutical carrier substances, auxiliary substances or/and additives.

16. Use of a composition as claimed in claim 14 or 15 for diagnosing diseases which are associated with disorders of the cell cycle, cell activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression.

17. Use of a composition as claimed in claim 14 or 15 for diagnosing a predisposition to diseases that are associated with disorders of the cell cycle, cell activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression.

18. Use of a composition as claimed in claim 14 or 15 for the production of an agent for diagnosing diseases that are associated with disorders of the cell cycle, cell activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression or an agent for diagnosing a predisposition to such diseases.

19. Use of a composition as claimed in claim 14 or 15 for the production of an agent for the treatment or prevention of diseases that are associated with disorders of the cell cycle, cell activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression.

20. Use as claimed in claim 19 for the production of an agent for gene therapy.

21. Method for diagnosing diseases that are associated with disorders of the cell cycle, cell Activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression or with a predisposition to such diseases,

wherein

a patient or a sample derived from a patient is contacted with a composition as claimed in claim 14 or 15 and the nucleotide sequence or/and the expression of a nucleic acid as claimed in claim 1 is determined, whereby the provision of claim 1 does not have to be taken into consideration.

22. Method for the treatment or prevention of diseases that are associated with disorders of the cell cycle, cell activation, cell cycle progression, DNA repair, cytopenias, tumorigenesis or/and tumour progression,

wherein

a composition as claimed in claim 14 or 15 which contains the active component in an amount that is effective against such a disease is administered to a patient.

23. Method for the identification of effectors of a protein as claimed in claim 8 or 9,

wherein

cells which express the protein are contacted with various potential effector substances and the cells are analysed for changes.

13. Modified polypeptide which comprises an amino acid sequence as claimed in 8 or 9.