Compositions comprising polynucleotides encoding RDCVF1 or RDCVF2
Disclosed are methods and compositions for early diagnosis, monitoring and treatment of retinal dystrophy, age-related macular degeneration, Bardet-Biedel syndrome, Bassen-kornzweig syndrome, best disease, choroidema, gyrate atrophy, congenital amourosis, refsun syndrome, stargardt disease and Usher syndrome. In particular, the invention relates to a protein, termed “Rdcvf1,” that is differentially transcribed and expressed in subjects suffering from retinal dystrophies and the like, such as retinal dystrophy and age-related macular degeneration compared with nonsufferers, antibodies which recognize this protein, and methods for diagnosing such conditions.
1. A pharmaceutical composition comprising:
a) an expression vector comprising a nucleic acid, wherein the nucleic acid comprises a nucleotide sequence encoding a Rod-Derived Cone Viability Factor 1 (RDCVF1) or a Rod-Derived Cone Viability Factor 2 (RDCVF2) polypeptide and wherein the nucleotide sequence is operably linked to an expression control sequence, and
b) a pharmaceutically acceptable carrier.
2. The pharmaceutical composition of claim 1 , wherein the expression vector is a viral vector.
3. The pharmaceutical composition of claim 2 , wherein the viral vector is an adeno-associated virus vector.
4. The pharmaceutical composition of claim 2 , wherein the viral vector is an adenovirus vector.
5. The pharmaceutical composition of claim 1 , wherein the expression control sequence is an inducible promoter.
6. The pharmaceutical composition of claim 1 , wherein the expression control sequence is a constitutive promoter.
7. The pharmaceutical composition of claim 1 , wherein the expression control sequence is a tissue specific promoter.
8. The pharmaceutical composition of claim 1 , wherein the polypeptide is a human RDCVF1 polypeptide.
9. The pharmaceutical composition of claim 8 , wherein the polypeptide is a long form of the human RDCVF1 polypeptide.
10. The pharmaceutical composition of claim 8 , wherein the polypeptide is a short form of the human RDCVF1 polypeptide.
11. The pharmaceutical composition of claim 1 , wherein the polypeptide is a human RDCVF2 polypeptide.
12. The pharmaceutical composition of claim 11 , wherein the polypeptide is a long form of the human RDCVF2 polypeptide.
13. The pharmaceutical composition of claim 11 , wherein the polypeptide is a short form of the human RDCVF2 polypeptide.
14. The pharmaceutical composition of claim 1 , wherein the polypeptide comprises the amino acid sequence of SEQ ID NO:6.
15. The pharmaceutical composition of claim 1 , wherein the polypeptide comprises the amino acid sequence of SEQ ID NO:8.
16. The pharmaceutical composition of claim 1 , wherein the polypeptide comprises the amino acid sequence of SEQ ID NO:14.