WO1999025721B1 - Detection and treatment of retinal degenerative disease - Google Patents
Detection and treatment of retinal degenerative diseaseInfo
- Publication number
- WO1999025721B1 WO1999025721B1 PCT/US1998/024322 US9824322W WO9925721B1 WO 1999025721 B1 WO1999025721 B1 WO 1999025721B1 US 9824322 W US9824322 W US 9824322W WO 9925721 B1 WO9925721 B1 WO 9925721B1
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- crx
- polypeptide
- nucleic acid
- seq
- dna
- Prior art date
Links
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K2319/00—Fusion polypeptide
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
Landscapes
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Physics & Mathematics (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Toxicology (AREA)
- Gastroenterology & Hepatology (AREA)
- Medicinal Chemistry (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Peptides Or Proteins (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
Abstract
The invention features a novel gene, CRX, which encodes a retinal-specific transcriptional activator protein. Mutations within the CRX gene are responsible for cone-rod dystrophy, a retinal degenerative disease. The invention features methods for the detection of CRX mutations, and for the prevention and treatment of retinal degenerative diseases influenced by the CRX gene.
Claims
AMENDED CLAIMS
[received by the International Bureau on 27 May 1999 (27.05.99); original claims 1-21 replaced by amended claims 1-21; remaining claims unchanged (3 pages)]
1). A substantially pure CRX polypeptide.
2). The polypeptide of claim 1, said polypeptide being a mammalian polypeptide.
3). The polypeptide of claim 2, said polypeptide being a human polypeptide, a murine polypeptide, or a canine polypeptide.
4). The polypeptide of claim 1, wherein said polypeptide is the polypeptide set forth in SEQ ID NO: 1, SEQ ID NO: 2, or SEQ ID NO 3.
5). The polypeptide of claim 1, said polypeptide having the biological activity of a CRX polypeptide.
6). Substantially pure nucleic acid encoding a CRX polypeptide.
7). The nucleic acid of claim 6, wherein said nucleic acid is DNA.
8). The DNA of claim 7, wherein said DNA is genomic DNA or cDNA; wherein said DNA encodes a CRX polypeptide having conservative amino acid substitutions, wherein said polypeptide has CRX biological activity; encodes the amino acid sequence of SEQ ID NO: 1; encodes the amino acid sequence of SEQ ID NO: 2; or encodes the amino acid sequence of SEQ ID NO: 3.
9). The nucleic acid of claim 7, wherein said nucleic acid hybridizes to sequences found within the nucleic acid of SEQ ID NO: 4, SEQ ID NO: 5, or SEQ ID NO: 6 under high stringency conditions.
119
10). The nucleic acid of claim 9, wherein said nucleic acid hybridizes to sequences found within the nucleic acid of SEQ ID NO: 4 under high stringency conditions.
11). A probe for analyzing the CRN nucleic acid of an animal, said probe having a sequence complementary to at least 50% of at least 60 nucleotides of the nucleic acid encoding the CRX polypeptide or complementary to the nucleic acid encoding the CRX polypeptide, said probe sufficient to allow nucleic acid hybridization to at least a portion of CRN nucleic acid under high stringency conditions.
12). The probe of claim 11, wherein said sequence is complementary to at least 90% of at least 18 nucleotides of the nucleic acid encoding the CRX polypeptide.
13). The nucleic acid of claim 1, wherein the sequence of said nucleic acid comprises the antisense sequence of a CRX ribonucleic acid or deoxyribonucleic acid coding strand, or a fragment thereof, sufficient to decrease CRX biological activity when present in a cell having CRX biological activity, but for the presence of said sequence.
14). The nucleic acid of claim 13, wherein said CRX biological activity is wild-type CRX biological activity.
15). The nucleic acid of claim 13, wherein said CRX biological activity is mutant CRX biological activity.
16). The antisense sequence of claim 15, wherein said antisense sequence is
120
specific for a mutant CRX coding region; comprises the transversion of an A nucleotide to a C nucleotide at base pair 239, said nucleotide being within the codon for gutamic acid at CRX amino acid position 80; the deletion of a G nucleotide usually present at base pair 502, said nucleotide being within the codon for glutamic acid at CRX amino acid position 168, or the transversion of a C nucleotide to a T nucleotide at base pair 551, said nucleotide being within the codon for proline at CRX amino acid position 184.
17). The nucleic of claim 7, wherein said DNA is operably linked to regulatory sequences for expression of said polypeptide; and wherein said regulatory sequences comprise a promoter.
18). Substantially pure DNA containing regulatory sequences sufficient for the transcriptional regulation of the CRX gene in vivo.
19). The regulatory sequences of claim 18, wherein said regulatory sequences comprise a promoter, wherein said promoter is inducible or is the CRX promoter.
20). The DNA of claim 18, wherein said DNA comprises the region from the CRN transcriptional start site to 1 kilobase upstream from said start site, 4 kilobases upstream from said start site, 6 kilobases upstream from said start site, 10 kilobases upstream from said start site, 25 kilobases upstream from said start site, 40 kilobases upstream from said start site, or 50 kilobases upstream from said start site.
21). A vector for gene therapy, said vector comprising the DΝA of claim 18.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| AU14089/99A AU1408999A (en) | 1997-11-13 | 1998-11-13 | Detection and treatment of retinal degenerative disease |
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US6532197P | 1997-11-13 | 1997-11-13 | |
| US60/065,321 | 1997-11-13 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| WO1999025721A1 WO1999025721A1 (en) | 1999-05-27 |
| WO1999025721B1 true WO1999025721B1 (en) | 1999-07-22 |
Family
ID=22061896
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PCT/US1998/024322 WO1999025721A1 (en) | 1997-11-13 | 1998-11-13 | Detection and treatment of retinal degenerative disease |
Country Status (2)
| Country | Link |
|---|---|
| AU (1) | AU1408999A (en) |
| WO (1) | WO1999025721A1 (en) |
Families Citing this family (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CA2430082A1 (en) * | 2000-11-29 | 2002-06-06 | Lynkeus Biotech Gmbh | Retina-specific human proteins c70rf9, c120rf7, mpp4 and f379 |
| KR20090096561A (en) | 2003-02-03 | 2009-09-10 | 도쿠리쓰교세이호징 가가쿠 기주쓰 신코 기코 | REGENERATION AND NEOGENESIS OF RETINAL VISUAL CELL WITH Otx2 GENE |
| GB2457300A (en) * | 2008-02-08 | 2009-08-12 | Norwegian School Of Veterinary | Diagnosis of cone-rod dystrophy |
| WO2022021149A1 (en) * | 2020-07-29 | 2022-02-03 | 北京中因科技有限公司 | Gene editing therapy for aav-mediated rpgr x-linked retinal degeneration |
| WO2022217142A1 (en) * | 2021-04-09 | 2022-10-13 | Washington University | Compositions and methods for treatment of crx-linked retinopathies |
-
1998
- 1998-11-13 WO PCT/US1998/024322 patent/WO1999025721A1/en active Application Filing
- 1998-11-13 AU AU14089/99A patent/AU1408999A/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| AU1408999A (en) | 1999-06-07 |
| WO1999025721A1 (en) | 1999-05-27 |
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