Chemistry: molecular biology and microbiology – Vector – per se
Reexamination Certificate
2000-08-09
2004-04-06
Kunz, Gary (Department: 1647)
Chemistry: molecular biology and microbiology
Vector, per se
C536S023100, C536S023200
Reexamination Certificate
active
06716621
ABSTRACT:
TECHNICAL FIELD
The present invention relates to a gene responsible for onset of Parkinson's disease. Since it was found that Parkinson's disease patients have a deletion in part of the gene, the gene of this invention is significantly useful as a gene for diagnosing Parkinson's disease, and a protein and a pharmaceutically active agent etc., obtainable from the inventive gene has usability in preventing and treating Parkinson's disease.
BACKGROUND ART
Generally, it is often considered that one or more gene is responsible for various chronic progressive diseases. Isolating the gene or genes responsible for these diseases not only enables one to facilitate prenatal or postnatal diagnosis but also enables to perform gene therapy for the disease based on the remarkable progress and development of gene therapy as seen today.
Parkinson's disease is a chronic disease. &agr;-synuclein reported in 1997 has so far been the only gene that has been found to be responsible for Parkinson's disease. It is reported that some people having Italian ancestry suffer from autosomal dominant Parkinson's disease due to mutation of this gene. There is, however, limitation in diagnosing Parkinson's disease even with use of this gene. Therefore, what has been adopted at present as a diagnosis for Parkinson's disease is merely a clinical approach based on neurodegenerative symptoms such as resting tremor, rigidity, akinesia, and disturbance of the righting ref lux, and a levodopa-responsive or dopaminergic compound (agonist) has been administered as a symptomatic treatment. So far no drastic therapy has been performed for treating Parkinson's disease.
DISCLOSURE OF THE INVENTION
The present invention has been made in view of the above. An object of this invention is to provide an isolated DNA or gene or gene fragment that is responsible for Parkinson's disease and is useful in diagnosing and treating the disease etc.; a recombinant vector; a protein or polypeptide; a monoclonal antibody or polyclonal antibody; a primer or probe or immobilized nucleic acid or DNA chip; and an oligonucleotide, or the like.
The isolated DNA or gene according to this invention that has overcome the above problems residing in the prior art is:
{circle around (1)} An isolated DNA or gene: comprising a full-length base sequence according to the SEQ ID. Nos. 1 or 3 (SEQ ID No. 3 does not include a base portion 636 to 719 (corresponding to exon 5 which is described later) of SEQ ID. No. 1, namely, a variant thereof according to alternative splicing), or a partial sequence thereof, or a base sequence hybridizable thereto or hybridizable with a complementary strand thereof, and being associated with Parkinson's disease.
Further, the inventive DNA or gene may include a DNA or gene or gene fragment having the following features {circle around (2)} to {circle around (8)}, in addition to {circle around (1)}.
{circle around (2)} An isolated DNA or gene: comprising the base sequence of {circle around (1)}, or the full-length base sequence thereof, or the base sequence partially thereof, and the isolated DNA or gene whose gene defect is responsible for Parkinson's disease, or comprising a base sequence hybridizable thereto or hybridizable with a complementary strand thereof.
An isolated DNA or gene comprising the base sequence of {circle around (1)} or {circle around (2)}, the isolated DNA or gene being variant thereof by alternative splicing, and being associated with Parkinson's disease, or the isolated DNA or gene comprising a base sequence hybridizable thereto or hybridizable with a complementary strand thereof.
{circle around (4)} A gene comprising the base sequence of any one of {circle around (1)} to {circle around (3)} whose gene product encodes a protein having a substantially equivalent function to a protein comprising amino acids 1 to 465 of SEQ ID. No. 2 or a protein comprising amino acids 1 to 437 of SEQ ID. No. 4.
{circle around (5)} An isolated DNA or gene comprising a gene where an exonic deletion, a nonsense base substitute, a missense base substitute, a base deletion, a base addition, a base insertion, a splicing abnormality and/or a frameshift with respect to the base sequence has occurred in any one of {circle around (1)} to {circle around (4)}; or comprising a base sequence hybridizable thereto or hybridizable with a, complementary strand thereof, and the isolated DNA or gene being associated with Parkinson's disease.
{circle around (6)} An isolated DNA or a gene, or a gene fragment comprising a partial base sequence of the DNA or the gene of any one of claims {circle around (1)} to {circle around (5)}, or an isolated DNA or a gene or a gene fragment comprising a base sequence hybridizable thereto or hybridizable with a complementary strand thereof.
{circle around (7)} A gene encoding a protein (a) or (b) comprising:
(a) the protein comprising amino acids 1 to 465 of SEQ ID. No. 1;
(b) the protein in which one or more amino acid(s) of the amino acid sequence is or are deleted, substituted, or added, and the protein being associated with Parkinson's disease.
{circle around (8)} A gene encoding a protein (c) or (d):
(c) the protein comprising amino acids 1 to 437 of SEQ ID. No. 4;
(d) the protein in which one or more amino acid(s) of the amino acid sequence is or are deleted, substituted, or added, and the protein being associated with Parkinson's disease.
The full-length base sequence SEQ ID. No. 1 is such that eleven introns are intervened among twelve exons on the genome; and encodes a protein having 1 to 465 amino acid sequence in a part (102 to 1496) of the base sequence. The base sequence of the intron in a boundary region between the exon and the intron has the following arrangement:
the intron intervening between exon 1 and exon 2 has a base sequence shown in SEQ ID. No. 9 adjacent to the 3′ end of the exon 1, and has a base sequence shown in SEQ ID. No. 10 adjacent to the 5′ end of the exon 2;
the intron intervening between exon 2 and exon 3 has a base sequence shown in SEQ ID. No. 11 adjacent to the 3′ end of the exon 2, and has a base sequence shown in SEQ ID. No. 12 adjacent to the 5′ end of the exon 3;
the intron intervening between exon 3 and exon 4 has a base sequence shown in SEQ ID. No. 13 adjacent to the 3′ end of the exon 3, and has a base sequence shown in SEQ ID. No. 14 adjacent to the 5′ end of the exon 4;
the intron intervening between exon 4 and exon 5 has a base sequence shown in SEQ ID. No. 15 adjacent to the 3′ end of the exon 4, and has a base sequence shown in SEQ ID. No. 16 adjacent to the 5′ end of the exon 5;
the intron intervening between exon 5 and exon 6 has a base sequence shown in SEQ ID. No. 17 adjacent to the 3′ end of the exon 5, and has a base sequence shown in SEQ ID. No. 18 adjacent to the 5′ end of the exon 6;
the intron intervening between exon 6 and exon 7 has a base sequence shown in SEQ ID. No. 19 adjacent to the 3′ end of the exon 6, and has a base sequence shown in SEQ ID. No. 20 adjacent to the 5′ end of the exon 7;
the intron intervening between exon 7 and exon 8 has a base sequence shown in SEQ ID. No. 21 adjacent to the 3′ end of the exon 7, and has a base sequence shown in SEQ ID. No. 22 adjacent to the 5′ end of the exon 8;
the intron intervening between exon 8 and exon 9 has a base sequence shown in SEQ ID. No. 23 adjacent to the 3′ end of the exon 8, and has a base sequence shown in SEQ ID. No. 24 adjacent to the 5′ end of the exon 9;
the intron intervening between exon 9 and exon 10 has a base sequence shown in SEQ ID. No. 25 adjacent to the 3′ end of the exon 9, and has a base sequence shown in SEQ ID. No. 26 adjacent to the 5′ end of the exon 10;
the intron intervening between exon 10 and exon 11 has a base sequence shown in SEQ ID. No. 27 adjacent to the 3′ end of the exon 10, and has a base sequence shown in SEQ ID. No. 28 adjacent to the 5′ end of the e
Mizuno Yoshikuni
Shimizu Nobuyoshi
Boehringer Ingelheim International GmbH
Kunz Gary
Sterne Kessler Goldstein & Fox P.L.L.C.
Turner Sharon
LandOfFree
Isolated DNA or gene responsible for Parkinson's disease does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Isolated DNA or gene responsible for Parkinson's disease, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Isolated DNA or gene responsible for Parkinson's disease will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-3273361