Chemistry: molecular biology and microbiology – Micro-organism – per se ; compositions thereof; proces of... – Bacteria or actinomycetales; media therefor
Patent
1996-04-10
1998-06-23
Chambers, Jasemine C.
Chemistry: molecular biology and microbiology
Micro-organism, per se ; compositions thereof; proces of...
Bacteria or actinomycetales; media therefor
435 6, 435325, 536 231, 536 2431, 536 235, C07H 2104, C12Q 168, C12N 1574, C12N 1585
Patent
active
057704325
ABSTRACT:
The gene responsible for the autosomal recessive mouse obesity mutation tub was identified by positional cloning. The homologous human gene is also provided. The genes are used to produce tubby protein; in screening for compositions that modulate the expression or function of the tubby protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to obesity, retinal degeneration or cochlear degeneration. The mutation responsible for the tub phenotype is a G to T transversion that abolishes a donor splice site in the 3' coding region and results in a larger transcript containing the unspliced intron. A second, prematurely truncated transcript arises from the introduction of a premature polyadenylation site in the unspliced intron.
REFERENCES:
patent: 5646040 (1997-07-01), Kleyn et al.
Lee et al., "Abnormal Splicing of the Leptin Receptor in Diabetic Mice," Nature (Feb. 1996), 379:632-635.
Ohlemiller et al., "Cochlear and Retinal Degeneration in the Tubby Mouse," NeuroReport (Apr. 1995), 6:845-849.
Samuelson et al., "Localization of the Murine Cholecystokinin A and B Receptor Genes," Mammalian Genome (1995), 6:242-246.
Zhang et al., "Positional Cloning of the Mouse Obese Gene and its Human Homologue," Nature (Dec. 1994), 372:425-432.
Nishina et al., "Characterization of Plasma Lipids in Genetically Obese Mice: The Mutants Obese, Diabetes, Fat, Tubby, and Lethal Yellow," Metabolism (May 1994), 43:549-553.
Jones et al., "Localization of Insulin-2 (Ins-2) and the Obesity Mutant Tubby (tub) to Distinct Regions of Mouse Chromosome 7," Genomics (1992), 14:197-199.
Coleman and Eicher, "Fat (fat) and Tubby (tub): Two Autosomal Recessive Mutations Causing Obesity Syndromes in the Mouse," J. of Heredity (1990), 81:424-427.
Naggert Juergen
Nishina Patsy
Noben-Trauth Konrad
North Michael
Chambers Jasemine C.
Jackson Laboratory
Priebe Scott D.
Sequana Therapeutics
Sherwood Pamela J.
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