Antibodies specific for fragile X related proteins and method of

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving antigen-antibody binding – specific binding protein...

Patent

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

5303879, 53038885, 5303891, G01N 33567, C07K 1628, C12P 2108

Patent

active

058769498

ABSTRACT:
The present invention relates to substantially pure FXR1 and FXR2 proteins and isolated nucleic acid molecules encoding the same. Recombinant expression vectors comprising nucleic acid sequences that encode FXR1 and FXR2 protein are also provided. Antibodies which bind to an epitope of FXR1 or FXR2, or FMR1 protein are also provided. The present invention also relates to methods of screening individuals for FMR1 deficiency using antibodies or nucleic acid molecules of the invention and pharmaceutical kits for accomplishing the same.

REFERENCES:
patent: 4683195 (1987-07-01), Mullis et al.
patent: 4683202 (1987-07-01), Mullis
patent: 4736866 (1988-04-01), Leder et al.
patent: 4873191 (1989-10-01), Wagner et al.
patent: 4965188 (1990-10-01), Mullis et al.
patent: 5075216 (1991-12-01), Innis et al.
Abitbol, M. et al., "Nucleus Basalis Magnocellularis and Hippocampus are the Major Sites of FMR-1 Expression in the Human Fetal Brain", Nature Genetics 1993, 4, 147-152.
Ashley, C. et al., "FMR 1 Protein: Conserved RNP Family Domains and Selective RNA Binding", Science 1993, 262, 563-566.
Bachner, D. et al., "Enhanced Fmr-1 Expression in Testis", Nature Genetics 1993, 4, 115-116.
Bakker, C. et al., "Fmr1 Knockout Mice: A model to Study Fragile X Mental Retardation", Cell 1994,78,23-33.
Burd, C. et al., "Conserved Structures and Diversity of Functions of RNA-binding Proteins", Science 1994, 265, 615-621.
Capecchi, M., "Altering the Genome by Homologous Recombination", Science 1989, 244, 1288-1292.
De Boulle, K. et al., "A Point Mutation in the FMR-1 Gene Associated with Fragile X Mental Retardation", Nature Genetics 1993, 3, 31-35.
Devys, D. et al., "The FMR-1 Protein is Cytoplasmic, Most Abundant in Neurons and Appears Normal in Carriers of a Fragile X Premutation", Nature Genetics 1993, 4, 335-340.
Eichler, E. et al., "Fine Structure of the Human FMR1 Gene", Hum. Mol. Genetics 1993, 2(8), 1147-1153.
Fu, Y.-H. et al., "Variation of the CGG Repeat at the Fragile X Site Results in Genetic Instability: Resolution of the Sherman Paradox", Cell 1991, 67, 1047-1058.
Gibson, T. et al., "The KH Domain Occurs in a Diverse Set of RNA-binding Proteins That INclude the Antiterminator NusA and is Probably Involved in Binding to Nucleic Acid", FEBS Letters 1993, 324(3), 361-366.
Gibson, T. et al., "KH Domains Within the FMR1 Sequence Suggest That Fragile X Syndrome Stems From a Defect in RNA Metabolism", Trends Biochem. Sci. 1993, 18, 331-333.
Green, E. and Olson, "Systematic Screening of Yeast Artificial-chromosome Libraries by Use of the Polymerase Chain Reaction", PNAS USA 1990, 87, 1213-1217.
Hagerman, R., "Fragile X Syndrome Diagnosis, Treatment and Research", The John Hopkins University Press, Baltimore, 1991, pp. 1-68.
Hinds, H. et al., "Tissue Specific Expression of FMR-1 Provides Evidence for a Functional Role in Fragile X Syndrome", Nature Genetics 1993, 3, 36-43.
Janne, P.A. et al., "Localization of the 75-kDa Inositol Polyphosphate-5-phosphatase (INPP5B) to Human Chromosome Band 1p34", Cytogenet. Cell Genet. 1994, 66, 164-166.
Kiledjian, M. and Dreyfuss, "Primary Structure and Binding Activity of the hnRNP U Protein: Binding RNA Through RGG Box", The EMBO Journal 1992, 11(7), 2655-2664.
Li, P. et al., "Mice Deficient in IL-1.beta.-Converting Enzyme Are Defective in Production of Mature IL-1.beta. and Resistant to Endotoxic Shock", Cell 1995, 80, 401-411.
Nussbaum, R. and Ledbetter, "The Fragile X Syndrome", from Metabolic Basis of Inherited Disease, Scriver, C.R. et al., eds., Johns Hopkins University Press, Baltimore, 1995, pp. 759-810.
Oberle, I. et al., "Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome", Science 1991, 252, 1097-1102.
Oostra, B. et al., "Fragile X Syndrome: A Growing Gene", in Genome Maps and Neurological Disorders, Davies and Tilghman, ed., vol. 6, Cold Spring Harbor Laboratory Press, 1993, pp. 45-75.
Pieretti, M. et al., "Absence of Expression of the FMR-1 Gene in Fragile X Syndrome", Cell 1991, 66, 817-822.
Siomi, H. et al., "The Protein Product of the Fragile X Gene, FMR1, Has Characteristics of an RNA-Binding Protein", Cell 1993, 74, 291-298.
Siomi, H. et al., "Essential Role for KH Domains in RNA Binding: Impaired RNA Binding by a Mutation in the KH Domain of FMR1 That Causes Fragile X Syndrome", Cell 1994, 77, 33-39.
Simoi, H. et al., "The Pre-mRNA Binding K Protein Contains a Novel Evolutionarily Conserved Motif", Nucleic Acids Research 1993, 21(5), 1193-1198.
Swanson, M. and Dreyfuss, "Classification and Purification of Proteins of Heterogeneous Nuclear RIbonucleoprotein Particles by RNA-Binding Specificities", Mol. and Cell. Biology 1988, 8(5), 2237-2241.
Verheij, C. et al., "Characterization and Localization of the FMR-1 Gene Product Associated with Fragile X Syndrome", Nature 1993, 363, 722-724.
Verkerk, A. et al., "Identification of a Gene (FMR-1) Containing a CGG Repeat Coincident wiht a Breakpoint Cluster Region Exhibiting Length Variation in Fragile X Syndrome", Cell 1991, 65, 905-914.
Wide, L., "Solid Phase Antigen-Antibody Systems", in Radioimmunoassay Methods, Kirkham, K.E. and Hunter, eds., Churchill Livingstone, Edinburgh, 1971, pp. 405-412.
Yu, S. et al., "Fragile X Genotype Characterized by an Unstable Region of DNA", Science 1991, 252, 1179-1181.
Annemieke, et al., "Identification of a Gene (FMR-1) Containing a CGG Repeat Coincident with a Breakpoint Cluster Region Exhibiting Length Variation in Fragile X Syndrome", Cell 1991, 65, 905-914.
Nishiguchi et al., "A Survey of Genes Expressed in undifferentiated Mouse Embryonal Carcinoma F9 Cells: Characterization of Low-Abundance mRN As", J. Biochem., 1994, 116, 128-139.
Database EST-STS, Accession No. D21720 (submitted to DDJB on Oct. 25, 1993,) by K. Shimada.
Database EST-STS, Accession No. Z43330 (submitted of Oct. 24, 1994).

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Antibodies specific for fragile X related proteins and method of does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Antibodies specific for fragile X related proteins and method of, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Antibodies specific for fragile X related proteins and method of will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-421423

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.