Human methionine synthase reductase: cloning, and methods...

Details Human methionine synthase reductase: cloning, and methods... Human methionine synthase reductase: cloning, and methods...

2006-05-16

2006-05-16

Prouty, Rebecca E. (Department: 1652)

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

C435S320100, C435S025000, C435S325000, C435S252300, C435S069100, C435S189000, C536S023100, C536S024310, C536S023500

Reexamination Certificate

active

07045612

ABSTRACT:
The invention features a novel gene encoding methionine synthase reductase. The invention also features a method for detecting an increased likelihood of hyperhomocysteinemia and, in turn, an increased or decreased likelihood of neural tube defects, cardiovascular disease, or cancer. The invention also features therapeutic methods for treating and/or reducing the risk of cardiovascular disease, cancer, or neural tube defects. Also provided are the sequences of the human methionine synthase reductase gene and protein and compounds and kits for performing the methods of the invention.

REFERENCES:
patent: WO 97/25440 (1997-07-01), None
patent: WO 99/06552 (1999-02-01), None
Strausberg “Homo sapienscDNA clone IMAGE:704126 5′, mRNA sequence”, GenBank direct Submission Accession No. AA279276, 1997.
Hillier et al. “Generation and Analysis of 280,000 Human Expressed Sequence Tas” (1996) Genome Res 6:807-828.
Bork, Genome Research, 10:398-400, 2000.
Broun et al., Science 282:1315-1317, 1998.
Seffernick et al. , J. Bacteriol. 183(8):2405-2410, 2001.
Van de Loo et al., Proc. Natl. Acad. Sci. 92:6743-6747, 1995.
Witkowski et al. , Biochemistry 38:11643-11650, 1999.
Wilson et al., “Molecular basis for methionine synthase reductase deficiency in patients belonging to the cbIE complementation group of disorders in folate/cobalamin metabolist,” Human Molecuar Genetics 8(11):2009-2016, (1999).
Brasch et al., “Neonatal Megaloblastic Anemia Associated with Reduced Cellular Uptake of Folate and Low Methyl-B12 Levels: A New Mutation,” Aust. N. Z. J. Med. 18 Supp.434 (1988).
Frosst et al., “A Candidate genetic Risk Factor for Vascular Disease: a Common Mutation in Methylenetetrahydrofolate Reductase,” Nat. Genet. 10:111-113 (1995).
Goyette et al., “Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification” Nature Genetics 7:195-200 (1994).
Gulati et al., “Defects in Auxillary Redox Proteins Lead to Functional Methionine Synthase Deficienty,” J. Biol. Chem. 272:19171-19175 (1997).
Hudson et al., “An STS-Based Map of the Human Genome,” Science 270:1945-1954 (1995).
Leclerc et al., “Molecular Cloning, Expression and Physical Mapping of the Human Methionine Synthase Reductase Gene,” Gene 12140:1-14 (1999).
Leclerc et al., “Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria”Proc. Natl. Acad. Sci. USA95:3059-3064 (1998).
Rosenblatt et al., “Altered Vitamin B12Metabolism in Fibroblasts from a Patient with Megaloblastic Anemia and Homocystinuria Due to a New Defect in Methionine Biosynthesis,” J. Clin. Invest. 74:2149-2156 (1984).
Rosenblatt et al., “Prenatal Vitamin B12Therapy of a Fetus with Methylcobalamin Deficiency (Cobatamin E Disease),” Lancet 1:1127-1129 (1985).
Rozen, “Molecular Genetic Aspects of Hyperthomocysteinemia and its Relation to Folic Acid,” Clin. Invest. Med. 19;171-178 (1996).
Schuh et al., “Homocystinuria and Megaloblastic Anemia Responsive to Vitamin B12Therapy,” N. Engl. J. Med. 310:686-690 (1984).
Tauro et al., “Dihydrofolate Reductase Deficiency Causing Megaloblastic Anemia in two Families,” N. Engl. J. Med., case one 294:466 (1976).
van der Put et al., “Mutated Methylenetetrahydrofolate Reductase as a Risk Factor for Spina Bifida,” The Lancet 346:1070-1071 (1995).
Watkins et al., “Functional Methionine Synthase Deficiency (cbIE and CblG): Clinical and Biochemical Heterogeneity,” Am. J. Med. Genet. 34:427-434 (1989).
Wilson et al., “A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increase Risk for Spina Bifida,” Molecular Genetics and Metabolism 67:317-323 (1999).

Affiliated with

Also associated with

Rating

Human methionine synthase reductase: cloning, and methods... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Human methionine synthase reductase: cloning, and methods..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Human methionine synthase reductase: cloning, and methods... will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3614724