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AssigneeErwin Si, Vincent Raymond and Jean Morissette
InventorsVincent Raymond, Jean Morissette, Erwin Si
Estimating the term…
Promoter sequences of the optineurin gene can be used to diagnose, prognose, and treat glaucoma and related disorders. Methods, kits, and nucleic acids capable of detecting or containing polymorphisms located within the promoter region of the optineurin gene are also provided. The promoter sequences can also be used to generate cells, vectors, and nucleic acids useful in a variety of diagnostic and prognostic methods and kits as well as therapeutic compounds, compositions and methods.
An isolated nucleic acid molecule that comprises at least 20 consecutive nucleotides but not more than 1500 consecutive nucleotides of the sequence of SEQ ID NO:
An isolated nucleic acid molecule comprising a promoter which comprises at least 20 consecutive nucleotides but not more than 1500 consecutive nucleotides of the sequence of SEQ ID NO:
A nucleic acid molecule capable of detecting a single nucleotide polymorphism selected from table 1.
A nucleic acid molecule capable of detecting a single nucleotide polymorphism in an optineurin promoter by specifically detecting said single nucleotide polymorphism in said optineurin promoter, wherein said nucleic acid molecule does not specifically hybridize to a nucleic acid molecule consisting of SEQ ID NO:
A host cell comprising a nucleic acid molecule comprising a promoter which comprises at least 20 consecutive nucleotides but not more than 1500 consecutive nucleotides of the sequence of SEQ ID NO:
A method for diagnosing glaucoma in a sample obtained from a cell or a bodily fluid by detecting a polymorphism in a promoter region of the optineurin gene, comprising the steps of:
A method for prognosing glaucoma in a sample obtained from a cell or a bodily fluid by detecting a polymorphism in a promoter region of the optineurin gene, comprising the steps of:
A method for diagnosing or prognosing glaucoma in a sample obtained from a cell or a bodily fluid by detecting a polymorphism in a promoter region of the optineurin gene, comprising the steps of:
A method for detecting the presence or absence of a SNP sequence variation in a sample containing DNA, comprising contacting a labeled nucleic acid capable of detecting a single nucleotide polymorphism selected from table 1 with the DNA of the sample under hybridization conditions and determining the presence of hybrid nucleic acid molecules comprising the labeled nucleic acid.
A method for detecting the presence or absence of an optineurin promoter sequence variation in a sample containing DNA, comprising providing amplification reaction primers that direct amplification of a selected nucleic acid region containing said sequence variation within said optineurin promoter, amplifyng the nucleic acid defined by the amplification reaction primers, and determining the presence or absence of said sequence variation.
A method for determining the presence of increased susceptibility to a glaucoma, or to a progressive ocular hypertensive disorder resulting in loss of visual field in a patient, or the severity or progression of glaucoma in a patient, comprising providing amplification reaction primers that direct amplification of a selected nucleic acid region containing said sequence variation within said optineurin promoter, amplifying the nucleic acid defined by the amplification reaction primers, and determining the presence or absence of said sequence variation.
A method for detecting a polymorphism comprising:
A kit for determining the presence of increased susceptibility to a glaucoma, or to a progressive ocular hypertensive disorder resulting in loss of visual field, or the severity or progression of glaucoma in a patient, comprising a labeled nucleic acid capable of detecting a single nucleotide polymorphism selected from table 1 and a means for detecting hybridization with the labeled nucleic acid, and instructions for using said kit.
A kit for determining the presence of increased susceptibility to a glaucoma, or to a progressive ocular hypertensive disorder resulting in loss of visual field in a patient, or the severity or progression of glaucoma in a patient, comprising amplification reaction primers that direct amplification of a selected nucleic acid region containing a characteristic nucleotide of an optineurin promoter SNP sequence variant and an enzyme for amplifying the region containing said characteristic nucleotide.
Dependencies are inferred from the claim text.
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Not used: regulators; Modulating activity
Not used: cytokine-induced proteins
For diseases caused by alterations of genetic material: for cancer
Oligonucleotides characterized by their use: polymorphic or mutational markers
Term end not estimated
Promoter sequences of the optineurin gene can be used to diagnose, prognose, and treat glaucoma and related disorders. Methods, kits, and nucleic acids capable of detecting or containing polymorphisms located within the promoter region of the optineurin gene are also provided. The promoter sequences can also be used to generate cells, vectors, and nucleic acids useful in a variety of diagnostic and prognostic methods and kits as well as therapeutic compounds, compositions and methods.
The glaucomas are a group of debilitating eye diseases which represent the leading cause of preventable blindness in the United States and other developed nations. Approximately 2.47 million people in the United States and over 67 million people world-wide are estimated to be affected with glaucoma, and over 100,000 Americans are expected to develop this condition every year. Quigley and Vitale, Invest. Ophthalmol. Vis. Sci. 38:83 (1997); Quigley, Br. J. Ophthalmol. 80:389 (1996). Glaucoma is a progressive optic neuropathy characterized by a particular pattern of visual field loss and optic nerve head damage resulting from a number of different disorders that affect the eye. In general, glaucomas are characterized by degeneration of the optic nerve.
Primary Open Angle Glaucoma (POAG), the most common form of glaucoma, is characterized by cupping of the optic nerve head, an altered visual field, and an open iridocorneal angle. Approximately one-half of patients with POAG have high-tension glaucoma, i.e., they exhibit an intraocular pressure (IOP) greater than the normal IOP of about 22 mm Hg. The increased IOP is caused in part by an alteration of the trabecular meshwork (TM), which leads to an obstruction of the normal ability of aqueous humor to leave its chamber surrounding the iris. Elevated IOP can result in progressive visual loss and blindness if not treated appropriately and in a timely fashion.
FIG. 1 depicts the genomic structure of optineurin, including regions which interact with other known proteins, putative functional domains, sizes of exons, and position and types of mutations observed.
FIG. 2 depicts an interaction of optineurin with other proteins and its potential involvement in alternative pathways of FAS-Ligand (left) and TNF-alpha (right). Interactions are depicted with solid arrows; downstream effects are depicted with open arrows; and a blocking effect of one protein on another is depicted with arrows ending in a circle.
FIG. 3 provides a diagrammatic representation of the location of single nucleotide polymorphisms (depicted as an “n” above the polymorphic nucleotide) and DNA motifs (cis elements) and putative regulatory regions (depicted by labeled lines beneath the nucleotides of the motif or regulatory region) and repeat elements (depicted by dotted lines above the nucleotides of the repeat element) in the optineurin promoter sequence (SEQ ID NO: 1).
SEQ ID NO: 1 is a Homo sapiens nucleotide sequence of optineurin promoter.
SEQ ID NO: 2 is a Homo sapiens nucleotide sequence of the optineurin promoter and the optineurin coding region.
SEQ ID NOs: 3 through 463 are Homo sapiens nucleotide sequences of DNA motifs, repeat elements, and putative regulatory regions identified in the human optineurin promoter.